Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations. Here the authors identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4.
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Nature Portfolio
2020
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oai:doaj.org-article:2394b397faac4471be86a22fa110d8db2021-12-02T14:42:48ZDigenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome10.1038/s41467-020-15198-92041-1723https://doaj.org/article/2394b397faac4471be86a22fa110d8db2020-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-15198-9https://doaj.org/toc/2041-1723While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations. Here the authors identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4.Mengnan LiShin-ya NishioChie NaruseMeghan RiddellSabrina SapskiTatsuya KatsunoTakao HikitaFatemeh MizapourshafiyiFiona M. SmithLeanne T. CooperMin Goo LeeMasahide AsanoThomas BoettgerMarcus KruegerAstrid WietelmannJohannes GraumannBryan W. DayAndrew W. BoydStefan OffermannsShin-ichiro KitajiriShin-ichi UsamiMasanori NakayamaNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-15 (2020) |
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DOAJ |
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DOAJ |
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EN |
| topic |
Science Q |
| spellingShingle |
Science Q Mengnan Li Shin-ya Nishio Chie Naruse Meghan Riddell Sabrina Sapski Tatsuya Katsuno Takao Hikita Fatemeh Mizapourshafiyi Fiona M. Smith Leanne T. Cooper Min Goo Lee Masahide Asano Thomas Boettger Marcus Krueger Astrid Wietelmann Johannes Graumann Bryan W. Day Andrew W. Boyd Stefan Offermanns Shin-ichiro Kitajiri Shin-ichi Usami Masanori Nakayama Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome |
| description |
While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations. Here the authors identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4. |
| format |
article |
| author |
Mengnan Li Shin-ya Nishio Chie Naruse Meghan Riddell Sabrina Sapski Tatsuya Katsuno Takao Hikita Fatemeh Mizapourshafiyi Fiona M. Smith Leanne T. Cooper Min Goo Lee Masahide Asano Thomas Boettger Marcus Krueger Astrid Wietelmann Johannes Graumann Bryan W. Day Andrew W. Boyd Stefan Offermanns Shin-ichiro Kitajiri Shin-ichi Usami Masanori Nakayama |
| author_facet |
Mengnan Li Shin-ya Nishio Chie Naruse Meghan Riddell Sabrina Sapski Tatsuya Katsuno Takao Hikita Fatemeh Mizapourshafiyi Fiona M. Smith Leanne T. Cooper Min Goo Lee Masahide Asano Thomas Boettger Marcus Krueger Astrid Wietelmann Johannes Graumann Bryan W. Day Andrew W. Boyd Stefan Offermanns Shin-ichiro Kitajiri Shin-ichi Usami Masanori Nakayama |
| author_sort |
Mengnan Li |
| title |
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome |
| title_short |
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome |
| title_full |
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome |
| title_fullStr |
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome |
| title_full_unstemmed |
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome |
| title_sort |
digenic inheritance of mutations in epha2 and slc26a4 in pendred syndrome |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/2394b397faac4471be86a22fa110d8db |
| work_keys_str_mv |
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