MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran wi...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Bademci, Guney [verfasserIn] Abad, Clemer [verfasserIn] Incesulu, Armagan [verfasserIn] Rad, Abolfazl [verfasserIn] Alper, Ozgul [verfasserIn] Kolb, Susanne M. [verfasserIn] Cengiz, Filiz B. [verfasserIn] Diaz-Horta, Oscar [verfasserIn] Silan, Fatma [verfasserIn] Mihci, Ercan [verfasserIn] Ocak, Emre [verfasserIn] Najafi, Maryam [verfasserIn] Maroofian, Reza [verfasserIn] Yilmaz, Elanur [verfasserIn] Nur, Banu G. [verfasserIn] Duman, Duygu [verfasserIn] Guo, Shengru [verfasserIn] Sant, David W. [verfasserIn] Wang, Gaofeng [verfasserIn] Monje, Paula V. [verfasserIn] Haaf, Thomas [verfasserIn] Blanton, Susan H. [verfasserIn] Vona, Barbara [verfasserIn] Walz, Katherina [verfasserIn] Tekin, Mustafa [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018 |
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| Übergeordnetes Werk: |
Enthalten in: Human genetics |
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| Übergeordnetes Werk: |
volume:137 ; year:2018 ; number:6-7 ; month:07 ; pages:479-486 |
| Links: |
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| DOI / URN: |
10.1007/s00439-018-1901-4 |
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| Katalog-ID: |
SPR00636733X |
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| 100 | 1 | |a Bademci, Guney |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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| 520 | |a Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. | ||
| 700 | 1 | |a Abad, Clemer |e verfasserin |4 aut | |
| 700 | 1 | |a Incesulu, Armagan |e verfasserin |4 aut | |
| 700 | 1 | |a Rad, Abolfazl |e verfasserin |4 aut | |
| 700 | 1 | |a Alper, Ozgul |e verfasserin |4 aut | |
| 700 | 1 | |a Kolb, Susanne M. |e verfasserin |4 aut | |
| 700 | 1 | |a Cengiz, Filiz B. |e verfasserin |4 aut | |
| 700 | 1 | |a Diaz-Horta, Oscar |e verfasserin |4 aut | |
| 700 | 1 | |a Silan, Fatma |e verfasserin |4 aut | |
| 700 | 1 | |a Mihci, Ercan |e verfasserin |4 aut | |
| 700 | 1 | |a Ocak, Emre |e verfasserin |4 aut | |
| 700 | 1 | |a Najafi, Maryam |e verfasserin |4 aut | |
| 700 | 1 | |a Maroofian, Reza |e verfasserin |4 aut | |
| 700 | 1 | |a Yilmaz, Elanur |e verfasserin |4 aut | |
| 700 | 1 | |a Nur, Banu G. |e verfasserin |4 aut | |
| 700 | 1 | |a Duman, Duygu |e verfasserin |4 aut | |
| 700 | 1 | |a Guo, Shengru |e verfasserin |4 aut | |
| 700 | 1 | |a Sant, David W. |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Gaofeng |e verfasserin |4 aut | |
| 700 | 1 | |a Monje, Paula V. |e verfasserin |4 aut | |
| 700 | 1 | |a Haaf, Thomas |e verfasserin |4 aut | |
| 700 | 1 | |a Blanton, Susan H. |e verfasserin |4 aut | |
| 700 | 1 | |a Vona, Barbara |e verfasserin |4 aut | |
| 700 | 1 | |a Walz, Katherina |e verfasserin |4 aut | |
| 700 | 1 | |a Tekin, Mustafa |e verfasserin |4 aut | |
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10.1007/s00439-018-1901-4 doi (DE-627)SPR00636733X (SPR)s00439-018-1901-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Bademci, Guney verfasserin aut MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. Abad, Clemer verfasserin aut Incesulu, Armagan verfasserin aut Rad, Abolfazl verfasserin aut Alper, Ozgul verfasserin aut Kolb, Susanne M. verfasserin aut Cengiz, Filiz B. verfasserin aut Diaz-Horta, Oscar verfasserin aut Silan, Fatma verfasserin aut Mihci, Ercan verfasserin aut Ocak, Emre verfasserin aut Najafi, Maryam verfasserin aut Maroofian, Reza verfasserin aut Yilmaz, Elanur verfasserin aut Nur, Banu G. verfasserin aut Duman, Duygu verfasserin aut Guo, Shengru verfasserin aut Sant, David W. verfasserin aut Wang, Gaofeng verfasserin aut Monje, Paula V. verfasserin aut Haaf, Thomas verfasserin aut Blanton, Susan H. verfasserin aut Vona, Barbara verfasserin aut Walz, Katherina verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 137(2018), 6-7 vom: Juli, Seite 479-486 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:137 year:2018 number:6-7 month:07 pages:479-486 https://dx.doi.org/10.1007/s00439-018-1901-4 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_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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 137 2018 6-7 07 479-486 |
| spelling |
10.1007/s00439-018-1901-4 doi (DE-627)SPR00636733X (SPR)s00439-018-1901-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Bademci, Guney verfasserin aut MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. Abad, Clemer verfasserin aut Incesulu, Armagan verfasserin aut Rad, Abolfazl verfasserin aut Alper, Ozgul verfasserin aut Kolb, Susanne M. verfasserin aut Cengiz, Filiz B. verfasserin aut Diaz-Horta, Oscar verfasserin aut Silan, Fatma verfasserin aut Mihci, Ercan verfasserin aut Ocak, Emre verfasserin aut Najafi, Maryam verfasserin aut Maroofian, Reza verfasserin aut Yilmaz, Elanur verfasserin aut Nur, Banu G. verfasserin aut Duman, Duygu verfasserin aut Guo, Shengru verfasserin aut Sant, David W. verfasserin aut Wang, Gaofeng verfasserin aut Monje, Paula V. verfasserin aut Haaf, Thomas verfasserin aut Blanton, Susan H. verfasserin aut Vona, Barbara verfasserin aut Walz, Katherina verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 137(2018), 6-7 vom: Juli, Seite 479-486 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:137 year:2018 number:6-7 month:07 pages:479-486 https://dx.doi.org/10.1007/s00439-018-1901-4 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_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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 137 2018 6-7 07 479-486 |
| allfields_unstemmed |
10.1007/s00439-018-1901-4 doi (DE-627)SPR00636733X (SPR)s00439-018-1901-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Bademci, Guney verfasserin aut MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. Abad, Clemer verfasserin aut Incesulu, Armagan verfasserin aut Rad, Abolfazl verfasserin aut Alper, Ozgul verfasserin aut Kolb, Susanne M. verfasserin aut Cengiz, Filiz B. verfasserin aut Diaz-Horta, Oscar verfasserin aut Silan, Fatma verfasserin aut Mihci, Ercan verfasserin aut Ocak, Emre verfasserin aut Najafi, Maryam verfasserin aut Maroofian, Reza verfasserin aut Yilmaz, Elanur verfasserin aut Nur, Banu G. verfasserin aut Duman, Duygu verfasserin aut Guo, Shengru verfasserin aut Sant, David W. verfasserin aut Wang, Gaofeng verfasserin aut Monje, Paula V. verfasserin aut Haaf, Thomas verfasserin aut Blanton, Susan H. verfasserin aut Vona, Barbara verfasserin aut Walz, Katherina verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 137(2018), 6-7 vom: Juli, Seite 479-486 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:137 year:2018 number:6-7 month:07 pages:479-486 https://dx.doi.org/10.1007/s00439-018-1901-4 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_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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 137 2018 6-7 07 479-486 |
| allfieldsGer |
10.1007/s00439-018-1901-4 doi (DE-627)SPR00636733X (SPR)s00439-018-1901-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Bademci, Guney verfasserin aut MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. Abad, Clemer verfasserin aut Incesulu, Armagan verfasserin aut Rad, Abolfazl verfasserin aut Alper, Ozgul verfasserin aut Kolb, Susanne M. verfasserin aut Cengiz, Filiz B. verfasserin aut Diaz-Horta, Oscar verfasserin aut Silan, Fatma verfasserin aut Mihci, Ercan verfasserin aut Ocak, Emre verfasserin aut Najafi, Maryam verfasserin aut Maroofian, Reza verfasserin aut Yilmaz, Elanur verfasserin aut Nur, Banu G. verfasserin aut Duman, Duygu verfasserin aut Guo, Shengru verfasserin aut Sant, David W. verfasserin aut Wang, Gaofeng verfasserin aut Monje, Paula V. verfasserin aut Haaf, Thomas verfasserin aut Blanton, Susan H. verfasserin aut Vona, Barbara verfasserin aut Walz, Katherina verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 137(2018), 6-7 vom: Juli, Seite 479-486 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:137 year:2018 number:6-7 month:07 pages:479-486 https://dx.doi.org/10.1007/s00439-018-1901-4 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_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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 137 2018 6-7 07 479-486 |
| allfieldsSound |
10.1007/s00439-018-1901-4 doi (DE-627)SPR00636733X (SPR)s00439-018-1901-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Bademci, Guney verfasserin aut MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. Abad, Clemer verfasserin aut Incesulu, Armagan verfasserin aut Rad, Abolfazl verfasserin aut Alper, Ozgul verfasserin aut Kolb, Susanne M. verfasserin aut Cengiz, Filiz B. verfasserin aut Diaz-Horta, Oscar verfasserin aut Silan, Fatma verfasserin aut Mihci, Ercan verfasserin aut Ocak, Emre verfasserin aut Najafi, Maryam verfasserin aut Maroofian, Reza verfasserin aut Yilmaz, Elanur verfasserin aut Nur, Banu G. verfasserin aut Duman, Duygu verfasserin aut Guo, Shengru verfasserin aut Sant, David W. verfasserin aut Wang, Gaofeng verfasserin aut Monje, Paula V. verfasserin aut Haaf, Thomas verfasserin aut Blanton, Susan H. verfasserin aut Vona, Barbara verfasserin aut Walz, Katherina verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 137(2018), 6-7 vom: Juli, Seite 479-486 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:137 year:2018 number:6-7 month:07 pages:479-486 https://dx.doi.org/10.1007/s00439-018-1901-4 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_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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 137 2018 6-7 07 479-486 |
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Bademci, Guney @@aut@@ Abad, Clemer @@aut@@ Incesulu, Armagan @@aut@@ Rad, Abolfazl @@aut@@ Alper, Ozgul @@aut@@ Kolb, Susanne M. @@aut@@ Cengiz, Filiz B. @@aut@@ Diaz-Horta, Oscar @@aut@@ Silan, Fatma @@aut@@ Mihci, Ercan @@aut@@ Ocak, Emre @@aut@@ Najafi, Maryam @@aut@@ Maroofian, Reza @@aut@@ Yilmaz, Elanur @@aut@@ Nur, Banu G. @@aut@@ Duman, Duygu @@aut@@ Guo, Shengru @@aut@@ Sant, David W. @@aut@@ Wang, Gaofeng @@aut@@ Monje, Paula V. @@aut@@ Haaf, Thomas @@aut@@ Blanton, Susan H. @@aut@@ Vona, Barbara @@aut@@ Walz, Katherina @@aut@@ Tekin, Mustafa @@aut@@ |
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2018-07-01T00:00:00Z |
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englisch |
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Bademci, Guney |
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Bademci, Guney ddc 610 bkl 44.48 MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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610 ASE 44.48 bkl MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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Bademci, Guney Abad, Clemer Incesulu, Armagan Rad, Abolfazl Alper, Ozgul Kolb, Susanne M. Cengiz, Filiz B. Diaz-Horta, Oscar Silan, Fatma Mihci, Ercan Ocak, Emre Najafi, Maryam Maroofian, Reza Yilmaz, Elanur Nur, Banu G. Duman, Duygu Guo, Shengru Sant, David W. Wang, Gaofeng Monje, Paula V. Haaf, Thomas Blanton, Susan H. Vona, Barbara Walz, Katherina Tekin, Mustafa |
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mpzl2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
| title_auth |
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
| abstract |
Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. |
| abstractGer |
Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. |
| abstract_unstemmed |
Abstract While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. |
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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