Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative...

Descripción completa

Detalles Bibliográficos
Autores principales: Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012844/
https://www.ncbi.nlm.nih.gov/pubmed/27621663
http://dx.doi.org/10.2147/TACG.S113828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012844/
https://www.ncbi.nlm.nih.gov/pubmed/27621663
http://dx.doi.org/10.2147/TACG.S113828

Ejemplares similares