Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aime...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Frohne, Alexandra [verfasserIn] Vrabel, Sybille [verfasserIn] Laccone, Franco [verfasserIn] Neesen, Juergen [verfasserIn] Roesch, Sebastian [verfasserIn] Dossena, Silvia [verfasserIn] Schoefer, Christian [verfasserIn] Frei, Klemens [verfasserIn] Parzefall, Thomas [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2024 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s) 2024 |
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| Übergeordnetes Werk: |
Enthalten in: European archives of oto-rhino-laryngology and head & neck - Springer Berlin Heidelberg, 1864, 281(2024), 7 vom: 24. Feb., Seite 3577-3586 |
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| Übergeordnetes Werk: |
volume:281 ; year:2024 ; number:7 ; day:24 ; month:02 ; pages:3577-3586 |
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| DOI / URN: |
10.1007/s00405-024-08492-5 |
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SPR056380542 |
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| 520 | |a Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. | ||
| 650 | 4 | |a Autosomal dominant hearing loss |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Syndromic hearing loss |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a ADHL |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Variant interpretation |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Mutational spectrum |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Vrabel, Sybille |e verfasserin |4 aut | |
| 700 | 1 | |a Laccone, Franco |e verfasserin |0 (orcid)0000-0001-9466-6441 |4 aut | |
| 700 | 1 | |a Neesen, Juergen |e verfasserin |0 (orcid)0000-0002-3635-2097 |4 aut | |
| 700 | 1 | |a Roesch, Sebastian |e verfasserin |0 (orcid)0000-0003-3579-6435 |4 aut | |
| 700 | 1 | |a Dossena, Silvia |e verfasserin |0 (orcid)0000-0002-6694-9249 |4 aut | |
| 700 | 1 | |a Schoefer, Christian |e verfasserin |0 (orcid)0000-0001-9570-5692 |4 aut | |
| 700 | 1 | |a Frei, Klemens |e verfasserin |0 (orcid)0000-0001-6301-2445 |4 aut | |
| 700 | 1 | |a Parzefall, Thomas |e verfasserin |0 (orcid)0000-0002-7817-5789 |4 aut | |
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10.1007/s00405-024-08492-5 doi (DE-627)SPR056380542 (SPR)s00405-024-08492-5-e DE-627 ger DE-627 rakwb eng 610 VZ 44.94 bkl Frohne, Alexandra verfasserin (orcid)0000-0001-6641-4001 aut Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. Autosomal dominant hearing loss (dpeaa)DE-He213 Syndromic hearing loss (dpeaa)DE-He213 ADHL (dpeaa)DE-He213 Variant interpretation (dpeaa)DE-He213 Mutational spectrum (dpeaa)DE-He213 Vrabel, Sybille verfasserin aut Laccone, Franco verfasserin (orcid)0000-0001-9466-6441 aut Neesen, Juergen verfasserin (orcid)0000-0002-3635-2097 aut Roesch, Sebastian verfasserin (orcid)0000-0003-3579-6435 aut Dossena, Silvia verfasserin (orcid)0000-0002-6694-9249 aut Schoefer, Christian verfasserin (orcid)0000-0001-9570-5692 aut Frei, Klemens verfasserin (orcid)0000-0001-6301-2445 aut Parzefall, Thomas verfasserin (orcid)0000-0002-7817-5789 aut Enthalten in European archives of oto-rhino-laryngology and head & neck Springer Berlin Heidelberg, 1864 281(2024), 7 vom: 24. Feb., Seite 3577-3586 (DE-627)253722667 (DE-600)1459042-6 1434-4726 nnns volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 https://dx.doi.org/10.1007/s00405-024-08492-5 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.94 VZ AR 281 2024 7 24 02 3577-3586 |
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10.1007/s00405-024-08492-5 doi (DE-627)SPR056380542 (SPR)s00405-024-08492-5-e DE-627 ger DE-627 rakwb eng 610 VZ 44.94 bkl Frohne, Alexandra verfasserin (orcid)0000-0001-6641-4001 aut Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. Autosomal dominant hearing loss (dpeaa)DE-He213 Syndromic hearing loss (dpeaa)DE-He213 ADHL (dpeaa)DE-He213 Variant interpretation (dpeaa)DE-He213 Mutational spectrum (dpeaa)DE-He213 Vrabel, Sybille verfasserin aut Laccone, Franco verfasserin (orcid)0000-0001-9466-6441 aut Neesen, Juergen verfasserin (orcid)0000-0002-3635-2097 aut Roesch, Sebastian verfasserin (orcid)0000-0003-3579-6435 aut Dossena, Silvia verfasserin (orcid)0000-0002-6694-9249 aut Schoefer, Christian verfasserin (orcid)0000-0001-9570-5692 aut Frei, Klemens verfasserin (orcid)0000-0001-6301-2445 aut Parzefall, Thomas verfasserin (orcid)0000-0002-7817-5789 aut Enthalten in European archives of oto-rhino-laryngology and head & neck Springer Berlin Heidelberg, 1864 281(2024), 7 vom: 24. Feb., Seite 3577-3586 (DE-627)253722667 (DE-600)1459042-6 1434-4726 nnns volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 https://dx.doi.org/10.1007/s00405-024-08492-5 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.94 VZ AR 281 2024 7 24 02 3577-3586 |
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10.1007/s00405-024-08492-5 doi (DE-627)SPR056380542 (SPR)s00405-024-08492-5-e DE-627 ger DE-627 rakwb eng 610 VZ 44.94 bkl Frohne, Alexandra verfasserin (orcid)0000-0001-6641-4001 aut Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. Autosomal dominant hearing loss (dpeaa)DE-He213 Syndromic hearing loss (dpeaa)DE-He213 ADHL (dpeaa)DE-He213 Variant interpretation (dpeaa)DE-He213 Mutational spectrum (dpeaa)DE-He213 Vrabel, Sybille verfasserin aut Laccone, Franco verfasserin (orcid)0000-0001-9466-6441 aut Neesen, Juergen verfasserin (orcid)0000-0002-3635-2097 aut Roesch, Sebastian verfasserin (orcid)0000-0003-3579-6435 aut Dossena, Silvia verfasserin (orcid)0000-0002-6694-9249 aut Schoefer, Christian verfasserin (orcid)0000-0001-9570-5692 aut Frei, Klemens verfasserin (orcid)0000-0001-6301-2445 aut Parzefall, Thomas verfasserin (orcid)0000-0002-7817-5789 aut Enthalten in European archives of oto-rhino-laryngology and head & neck Springer Berlin Heidelberg, 1864 281(2024), 7 vom: 24. Feb., Seite 3577-3586 (DE-627)253722667 (DE-600)1459042-6 1434-4726 nnns volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 https://dx.doi.org/10.1007/s00405-024-08492-5 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.94 VZ AR 281 2024 7 24 02 3577-3586 |
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10.1007/s00405-024-08492-5 doi (DE-627)SPR056380542 (SPR)s00405-024-08492-5-e DE-627 ger DE-627 rakwb eng 610 VZ 44.94 bkl Frohne, Alexandra verfasserin (orcid)0000-0001-6641-4001 aut Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. Autosomal dominant hearing loss (dpeaa)DE-He213 Syndromic hearing loss (dpeaa)DE-He213 ADHL (dpeaa)DE-He213 Variant interpretation (dpeaa)DE-He213 Mutational spectrum (dpeaa)DE-He213 Vrabel, Sybille verfasserin aut Laccone, Franco verfasserin (orcid)0000-0001-9466-6441 aut Neesen, Juergen verfasserin (orcid)0000-0002-3635-2097 aut Roesch, Sebastian verfasserin (orcid)0000-0003-3579-6435 aut Dossena, Silvia verfasserin (orcid)0000-0002-6694-9249 aut Schoefer, Christian verfasserin (orcid)0000-0001-9570-5692 aut Frei, Klemens verfasserin (orcid)0000-0001-6301-2445 aut Parzefall, Thomas verfasserin (orcid)0000-0002-7817-5789 aut Enthalten in European archives of oto-rhino-laryngology and head & neck Springer Berlin Heidelberg, 1864 281(2024), 7 vom: 24. Feb., Seite 3577-3586 (DE-627)253722667 (DE-600)1459042-6 1434-4726 nnns volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 https://dx.doi.org/10.1007/s00405-024-08492-5 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.94 VZ AR 281 2024 7 24 02 3577-3586 |
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10.1007/s00405-024-08492-5 doi (DE-627)SPR056380542 (SPR)s00405-024-08492-5-e DE-627 ger DE-627 rakwb eng 610 VZ 44.94 bkl Frohne, Alexandra verfasserin (orcid)0000-0001-6641-4001 aut Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. Autosomal dominant hearing loss (dpeaa)DE-He213 Syndromic hearing loss (dpeaa)DE-He213 ADHL (dpeaa)DE-He213 Variant interpretation (dpeaa)DE-He213 Mutational spectrum (dpeaa)DE-He213 Vrabel, Sybille verfasserin aut Laccone, Franco verfasserin (orcid)0000-0001-9466-6441 aut Neesen, Juergen verfasserin (orcid)0000-0002-3635-2097 aut Roesch, Sebastian verfasserin (orcid)0000-0003-3579-6435 aut Dossena, Silvia verfasserin (orcid)0000-0002-6694-9249 aut Schoefer, Christian verfasserin (orcid)0000-0001-9570-5692 aut Frei, Klemens verfasserin (orcid)0000-0001-6301-2445 aut Parzefall, Thomas verfasserin (orcid)0000-0002-7817-5789 aut Enthalten in European archives of oto-rhino-laryngology and head & neck Springer Berlin Heidelberg, 1864 281(2024), 7 vom: 24. Feb., Seite 3577-3586 (DE-627)253722667 (DE-600)1459042-6 1434-4726 nnns volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 https://dx.doi.org/10.1007/s00405-024-08492-5 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.94 VZ AR 281 2024 7 24 02 3577-3586 |
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Enthalten in European archives of oto-rhino-laryngology and head & neck 281(2024), 7 vom: 24. Feb., Seite 3577-3586 volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 |
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Enthalten in European archives of oto-rhino-laryngology and head & neck 281(2024), 7 vom: 24. Feb., Seite 3577-3586 volume:281 year:2024 number:7 day:24 month:02 pages:3577-3586 |
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Autosomal dominant hearing loss Syndromic hearing loss ADHL Variant interpretation Mutational spectrum |
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Frohne, Alexandra @@aut@@ Vrabel, Sybille @@aut@@ Laccone, Franco @@aut@@ Neesen, Juergen @@aut@@ Roesch, Sebastian @@aut@@ Dossena, Silvia @@aut@@ Schoefer, Christian @@aut@@ Frei, Klemens @@aut@@ Parzefall, Thomas @@aut@@ |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000naa a22002652 4500</leader><controlfield tag="001">SPR056380542</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240628070719.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">240628s2024 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00405-024-08492-5</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR056380542</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00405-024-08492-5-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.94</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Frohne, Alexandra</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0001-6641-4001</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2024</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s) 2024</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. 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Frohne, Alexandra |
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Frohne, Alexandra ddc 610 bkl 44.94 misc Autosomal dominant hearing loss misc Syndromic hearing loss misc ADHL misc Variant interpretation misc Mutational spectrum Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria |
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610 VZ 44.94 bkl Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria Autosomal dominant hearing loss (dpeaa)DE-He213 Syndromic hearing loss (dpeaa)DE-He213 ADHL (dpeaa)DE-He213 Variant interpretation (dpeaa)DE-He213 Mutational spectrum (dpeaa)DE-He213 |
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ddc 610 bkl 44.94 misc Autosomal dominant hearing loss misc Syndromic hearing loss misc ADHL misc Variant interpretation misc Mutational spectrum |
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ddc 610 bkl 44.94 misc Autosomal dominant hearing loss misc Syndromic hearing loss misc ADHL misc Variant interpretation misc Mutational spectrum |
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ddc 610 bkl 44.94 misc Autosomal dominant hearing loss misc Syndromic hearing loss misc ADHL misc Variant interpretation misc Mutational spectrum |
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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria |
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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria |
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Frohne, Alexandra |
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European archives of oto-rhino-laryngology and head & neck |
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Frohne, Alexandra Vrabel, Sybille Laccone, Franco Neesen, Juergen Roesch, Sebastian Dossena, Silvia Schoefer, Christian Frei, Klemens Parzefall, Thomas |
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Frohne, Alexandra |
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10.1007/s00405-024-08492-5 |
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(ORCID)0000-0001-6641-4001 (ORCID)0000-0001-9466-6441 (ORCID)0000-0002-3635-2097 (ORCID)0000-0003-3579-6435 (ORCID)0000-0002-6694-9249 (ORCID)0000-0001-9570-5692 (ORCID)0000-0001-6301-2445 (ORCID)0000-0002-7817-5789 |
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mutational spectrum in patients with dominant non-syndromic hearing loss in austria |
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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria |
| abstract |
Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. © The Author(s) 2024 |
| abstractGer |
Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. © The Author(s) 2024 |
| abstract_unstemmed |
Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. Methods In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature. Results The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations. Conclusion More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants. © The Author(s) 2024 |
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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria |
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https://dx.doi.org/10.1007/s00405-024-08492-5 |
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Vrabel, Sybille Laccone, Franco Neesen, Juergen Roesch, Sebastian Dossena, Silvia Schoefer, Christian Frei, Klemens Parzefall, Thomas |
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| score |
7.3999157 |