A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in a large Korean family with NSHL showing a typical pattern of autosomal dom...

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Detalles Bibliográficos
Autores principales: Song, Ju Sun, Bahloul, Amel, Petit, Christine, Kim, Sang Jin, Moon, Il Joon, Lee, Jinhyuk, Ki, Change-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933062/
https://www.ncbi.nlm.nih.gov/pubmed/31858762
http://dx.doi.org/10.3343/alm.2020.40.3.224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933062/
https://www.ncbi.nlm.nih.gov/pubmed/31858762
http://dx.doi.org/10.3343/alm.2020.40.3.224

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