Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss
Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and p...
Ausführliche Beschreibung
Autor*in: |
Noman, Muhammad [verfasserIn] Bukhari, Shazia A. [verfasserIn] Rehman, Sakina [verfasserIn] Qasim, Muhammad [verfasserIn] Ali, Muhammad [verfasserIn] Riazuddin, Saima [verfasserIn] Ahmed, Zubair M. [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2020 |
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Übergeordnetes Werk: |
Enthalten in: Molecular biology reports - Dordrecht [u.a.] : Springer Science + Business Media B.V, 1973, 47(2020), 12 vom: 24. Nov., Seite 9987-9993 |
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Übergeordnetes Werk: |
volume:47 ; year:2020 ; number:12 ; day:24 ; month:11 ; pages:9987-9993 |
Links: |
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DOI / URN: |
10.1007/s11033-020-06016-y |
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Katalog-ID: |
SPR042308798 |
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245 | 1 | 0 | |a Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss |
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520 | |a Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. | ||
650 | 4 | |a Sensorineural hearing loss |7 (dpeaa)DE-He213 | |
650 | 4 | |a USH1C |7 (dpeaa)DE-He213 | |
650 | 4 | |a Usher syndrome |7 (dpeaa)DE-He213 | |
650 | 4 | |a Exome sequencing |7 (dpeaa)DE-He213 | |
650 | 4 | |a Genetic heterogeneity |7 (dpeaa)DE-He213 | |
650 | 4 | |a SLC26A4 |7 (dpeaa)DE-He213 | |
650 | 4 | |a Prelingual hearing impairment |7 (dpeaa)DE-He213 | |
700 | 1 | |a Bukhari, Shazia A. |e verfasserin |4 aut | |
700 | 1 | |a Rehman, Sakina |e verfasserin |4 aut | |
700 | 1 | |a Qasim, Muhammad |e verfasserin |4 aut | |
700 | 1 | |a Ali, Muhammad |e verfasserin |4 aut | |
700 | 1 | |a Riazuddin, Saima |e verfasserin |4 aut | |
700 | 1 | |a Ahmed, Zubair M. |e verfasserin |4 aut | |
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10.1007/s11033-020-06016-y doi (DE-627)SPR042308798 (DE-599)SPRs11033-020-06016-y-e (SPR)s11033-020-06016-y-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl Noman, Muhammad verfasserin aut Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. Sensorineural hearing loss (dpeaa)DE-He213 USH1C (dpeaa)DE-He213 Usher syndrome (dpeaa)DE-He213 Exome sequencing (dpeaa)DE-He213 Genetic heterogeneity (dpeaa)DE-He213 SLC26A4 (dpeaa)DE-He213 Prelingual hearing impairment (dpeaa)DE-He213 Bukhari, Shazia A. verfasserin aut Rehman, Sakina verfasserin aut Qasim, Muhammad verfasserin aut Ali, Muhammad verfasserin aut Riazuddin, Saima verfasserin aut Ahmed, Zubair M. verfasserin aut Enthalten in Molecular biology reports Dordrecht [u.a.] : Springer Science + Business Media B.V, 1973 47(2020), 12 vom: 24. Nov., Seite 9987-9993 (DE-627)270930639 (DE-600)1478217-0 1573-4978 nnns volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 https://dx.doi.org/10.1007/s11033-020-06016-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A 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_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_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 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 42.13 ASE AR 47 2020 12 24 11 9987-9993 |
spelling |
10.1007/s11033-020-06016-y doi (DE-627)SPR042308798 (DE-599)SPRs11033-020-06016-y-e (SPR)s11033-020-06016-y-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl Noman, Muhammad verfasserin aut Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. Sensorineural hearing loss (dpeaa)DE-He213 USH1C (dpeaa)DE-He213 Usher syndrome (dpeaa)DE-He213 Exome sequencing (dpeaa)DE-He213 Genetic heterogeneity (dpeaa)DE-He213 SLC26A4 (dpeaa)DE-He213 Prelingual hearing impairment (dpeaa)DE-He213 Bukhari, Shazia A. verfasserin aut Rehman, Sakina verfasserin aut Qasim, Muhammad verfasserin aut Ali, Muhammad verfasserin aut Riazuddin, Saima verfasserin aut Ahmed, Zubair M. verfasserin aut Enthalten in Molecular biology reports Dordrecht [u.a.] : Springer Science + Business Media B.V, 1973 47(2020), 12 vom: 24. Nov., Seite 9987-9993 (DE-627)270930639 (DE-600)1478217-0 1573-4978 nnns volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 https://dx.doi.org/10.1007/s11033-020-06016-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A 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_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_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 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 42.13 ASE AR 47 2020 12 24 11 9987-9993 |
allfields_unstemmed |
10.1007/s11033-020-06016-y doi (DE-627)SPR042308798 (DE-599)SPRs11033-020-06016-y-e (SPR)s11033-020-06016-y-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl Noman, Muhammad verfasserin aut Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. Sensorineural hearing loss (dpeaa)DE-He213 USH1C (dpeaa)DE-He213 Usher syndrome (dpeaa)DE-He213 Exome sequencing (dpeaa)DE-He213 Genetic heterogeneity (dpeaa)DE-He213 SLC26A4 (dpeaa)DE-He213 Prelingual hearing impairment (dpeaa)DE-He213 Bukhari, Shazia A. verfasserin aut Rehman, Sakina verfasserin aut Qasim, Muhammad verfasserin aut Ali, Muhammad verfasserin aut Riazuddin, Saima verfasserin aut Ahmed, Zubair M. verfasserin aut Enthalten in Molecular biology reports Dordrecht [u.a.] : Springer Science + Business Media B.V, 1973 47(2020), 12 vom: 24. Nov., Seite 9987-9993 (DE-627)270930639 (DE-600)1478217-0 1573-4978 nnns volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 https://dx.doi.org/10.1007/s11033-020-06016-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A 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_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_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 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 42.13 ASE AR 47 2020 12 24 11 9987-9993 |
allfieldsGer |
10.1007/s11033-020-06016-y doi (DE-627)SPR042308798 (DE-599)SPRs11033-020-06016-y-e (SPR)s11033-020-06016-y-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl Noman, Muhammad verfasserin aut Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. Sensorineural hearing loss (dpeaa)DE-He213 USH1C (dpeaa)DE-He213 Usher syndrome (dpeaa)DE-He213 Exome sequencing (dpeaa)DE-He213 Genetic heterogeneity (dpeaa)DE-He213 SLC26A4 (dpeaa)DE-He213 Prelingual hearing impairment (dpeaa)DE-He213 Bukhari, Shazia A. verfasserin aut Rehman, Sakina verfasserin aut Qasim, Muhammad verfasserin aut Ali, Muhammad verfasserin aut Riazuddin, Saima verfasserin aut Ahmed, Zubair M. verfasserin aut Enthalten in Molecular biology reports Dordrecht [u.a.] : Springer Science + Business Media B.V, 1973 47(2020), 12 vom: 24. Nov., Seite 9987-9993 (DE-627)270930639 (DE-600)1478217-0 1573-4978 nnns volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 https://dx.doi.org/10.1007/s11033-020-06016-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A 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_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_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 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 42.13 ASE AR 47 2020 12 24 11 9987-9993 |
allfieldsSound |
10.1007/s11033-020-06016-y doi (DE-627)SPR042308798 (DE-599)SPRs11033-020-06016-y-e (SPR)s11033-020-06016-y-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl Noman, Muhammad verfasserin aut Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. Sensorineural hearing loss (dpeaa)DE-He213 USH1C (dpeaa)DE-He213 Usher syndrome (dpeaa)DE-He213 Exome sequencing (dpeaa)DE-He213 Genetic heterogeneity (dpeaa)DE-He213 SLC26A4 (dpeaa)DE-He213 Prelingual hearing impairment (dpeaa)DE-He213 Bukhari, Shazia A. verfasserin aut Rehman, Sakina verfasserin aut Qasim, Muhammad verfasserin aut Ali, Muhammad verfasserin aut Riazuddin, Saima verfasserin aut Ahmed, Zubair M. verfasserin aut Enthalten in Molecular biology reports Dordrecht [u.a.] : Springer Science + Business Media B.V, 1973 47(2020), 12 vom: 24. Nov., Seite 9987-9993 (DE-627)270930639 (DE-600)1478217-0 1573-4978 nnns volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 https://dx.doi.org/10.1007/s11033-020-06016-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A 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_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_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 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 42.13 ASE AR 47 2020 12 24 11 9987-9993 |
language |
English |
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Enthalten in Molecular biology reports 47(2020), 12 vom: 24. Nov., Seite 9987-9993 volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 |
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Enthalten in Molecular biology reports 47(2020), 12 vom: 24. Nov., Seite 9987-9993 volume:47 year:2020 number:12 day:24 month:11 pages:9987-9993 |
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topic_facet |
Sensorineural hearing loss USH1C Usher syndrome Exome sequencing Genetic heterogeneity SLC26A4 Prelingual hearing impairment |
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Noman, Muhammad @@aut@@ Bukhari, Shazia A. @@aut@@ Rehman, Sakina @@aut@@ Qasim, Muhammad @@aut@@ Ali, Muhammad @@aut@@ Riazuddin, Saima @@aut@@ Ahmed, Zubair M. @@aut@@ |
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2020-11-24T00:00:00Z |
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author |
Noman, Muhammad |
spellingShingle |
Noman, Muhammad ddc 570 bkl 42.13 misc Sensorineural hearing loss misc USH1C misc Usher syndrome misc Exome sequencing misc Genetic heterogeneity misc SLC26A4 misc Prelingual hearing impairment Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss |
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570 ASE 42.13 bkl Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss Sensorineural hearing loss (dpeaa)DE-He213 USH1C (dpeaa)DE-He213 Usher syndrome (dpeaa)DE-He213 Exome sequencing (dpeaa)DE-He213 Genetic heterogeneity (dpeaa)DE-He213 SLC26A4 (dpeaa)DE-He213 Prelingual hearing impairment (dpeaa)DE-He213 |
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ddc 570 bkl 42.13 misc Sensorineural hearing loss misc USH1C misc Usher syndrome misc Exome sequencing misc Genetic heterogeneity misc SLC26A4 misc Prelingual hearing impairment |
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ddc 570 bkl 42.13 misc Sensorineural hearing loss misc USH1C misc Usher syndrome misc Exome sequencing misc Genetic heterogeneity misc SLC26A4 misc Prelingual hearing impairment |
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Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss |
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Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss |
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Noman, Muhammad Bukhari, Shazia A. Rehman, Sakina Qasim, Muhammad Ali, Muhammad Riazuddin, Saima Ahmed, Zubair M. |
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Noman, Muhammad |
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identification and computational analysis of ush1c, and slc26a4 variants in pakistani families with prelingual hearing loss |
title_auth |
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss |
abstract |
Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. |
abstractGer |
Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. |
abstract_unstemmed |
Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. |
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container_issue |
12 |
title_short |
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss |
url |
https://dx.doi.org/10.1007/s11033-020-06016-y |
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author2 |
Bukhari, Shazia A. Rehman, Sakina Qasim, Muhammad Ali, Muhammad Riazuddin, Saima Ahmed, Zubair M. |
author2Str |
Bukhari, Shazia A. Rehman, Sakina Qasim, Muhammad Ali, Muhammad Riazuddin, Saima Ahmed, Zubair M. |
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up_date |
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|
score |
7.399988 |