Novel Variant in <i>CEP250</i> Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss

Novel Variant in <i>CEP250</i> Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss

Genetic hearing loss is the most common hereditary sensorial disorder. Though more than 120 genes associated with deafness have been identified, unveiled causative genes and variants of diverse types of hearing loss remain. Herein, we identified a novel nonsense homozygous variant in <i>CEP250...

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Bibliographic Details
Main Authors: Minjin Kang, Jung Ah Kim, Mee Hyun Song, Sun Young Joo, Se Jin Kim, Seung Hyun Jang, Ho Lee, Je Kyung Seong, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Cells
Subjects:
genetic hearing loss
<i>CEP250</i>
<i>C-Nap1</i>
centrosome
ciliary protein
Online Access:https://www.mdpi.com/2073-4409/12/18/2328

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