Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Abstract Background Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss‐of‐function variants in Protocadherin 15 (PCDH15), which encodes the PCDH15 protein that plays an important role...

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Bibliographic Details
Main Authors: Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang
Format: Article
Language:English
Published: Wiley 2023-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
case report
deep‐intronic variant
PCDH15
splicing
whole genome sequencing
Online Access:https://doi.org/10.1002/mgg3.2193

Internet

https://doi.org/10.1002/mgg3.2193

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