Clinical and genetic features of a Chinese family with nonsydromic X-linked recessive hearing loss
Abstract：Objective To report the clinical and genetic characteristics of a large Chinese pedigree with X-linked recessive non-syndromic hearing loss. Methods We used deafness-questionnaires to collect detailed medical history in-formation. Syndromic hearing loss was ruled out via clinical examination, otoscopy and pure-tone audiometry. We plot-ted the pedigree based on the genetic and audiology characteristics of this family and screened GJB2, GJB3 and mtDNA to exclude well known pathogenic mutations. Results A total of 28 members were alive in this four-generations family, and 5 males were found to be hearing-impaired. Most of the patients had moderate to profound sensorineural hearing loss affecting predominantly the middle and high frequencies. One child with apparently pre-lingual hearing loss failed the newborn hearing screening. One carrier female showed mild hearing loss. The characteristic audiometric configura-tion was either a U or a steep sloping pattern. We did not find any causative mutations by screening the three common deafness genes. Conclusions Pedigree analysis of this family indicates an X-recessive inheritance pattern of hearing im-pairment, in which affected-male members showed pre-lingual or post-lingual, symmetrical and fast-progressing hearing loss. Whole-exome sequencing is probably needed to identify the disease-causing gene in this family.
Keywords：PedigreeX-linked hearing lossPhenotypeHereditary deafness
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 195-200 )