Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process
Author:
Publisher
Elsevier BV
Subject
General Agricultural and Biological Sciences
Reference35 articles.
1. GJB2: the spectrum of deafness-causing allele variants and their phenotype;Azaiez;Hum. Mutat.,2004
2. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition;Ben Ayed;Am. J. Med. Genet. A.,2021
3. Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness;Ben Rebeh;Mol. Vis.,2010
4. A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment;Birkenhager;Biomed. Res. Int.,2014
5. CDH23 Methylation Status and Presbycusis Risk in Elderly Women;Bouzid;Front. Aging Neurosci.,2018
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