The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

doi:10.3390/genes15050588

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Article

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

Genes - 6 May 2024

Tlili Abdelaziz, Mutery Abdullah Al, Chouchen Jihen

Abstract excerpt

Hearing impairment, a rare inherited condition, is notably prevalent in populations with high rates of consanguinity. The most common form observed globally is autosomal recessive non-syndromic hearing loss. Despite its prevalence, this genetic disorder is characterized by a substantial genetic diversity, making diagnosis and screening challenging. The emergence of advanced next-generation sequencing (NGS)...

Topics

Adult
Female
Humans
Male
Claudins
Codon, Nonsense
Connexin 26
Connexins
Deafness
Exome Sequencing
Mutation
Pedigree
Phenotype
Syria

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PMID: 38790217
DOI: 10.3390/genes15050588
PMCID: PMC11121454

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