首页|Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss
Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss
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Hearing loss constitutes one of the most prevalent conditions within the field of otolaryngology.Recent in-vestigations have revealed that mutations in deafness-associated genes,including point mutations and variations in DNA sequences,can cause hearing impairments.With the ethology of deafness remaining unclear for a sub-stantial portion of the affected population,further screenings for pathogenic mutations are imperative to unveil the underlying mechanisms.On this study,by using next-generation sequencing,we examine 129 commonly im-plicated deafness-related genes in a Chinese family with hearing loss,revealing a novel heterozygous dominant mutation in the GJB2 gene(GJB2:c.65T>G:p.Lys22Thr).This mutation consistently occurs in affected family members but is not detected in unaffected individuals,strongly suggesting its causative role in hearing loss.Structural analysis indicates potential disruption to the Cx26 gap junction channel's hydrogen bond and electro-static interactions,aligning with predictions from the PolyPhen and SIFT algorithms.In conclusion,our study provides conclusive evidence that the identified heterozygous GJB2 mutation(GJB2:c.65T>G:p.Lys22Thr),specifically the K22T alteration,is the primary determinant of the family's deafness.This contribution enhances our understanding of the interplay between common deafness-associated genes and hearing loss,offering valuable insights for diagnostic guidance and the formulation of therapeutic strategies for this condition.
Department of the Affiliated Eye and ENT Hospital,State Key Laboratory of Medical Neurobiology,ENT Institute and Otorhinolaryngology,Fudan University,Shanghai 200031,China
NHC Key Laboratory of Hearing Medicine,Fudan University,Shanghai 200031,China
Shanghai Engineering Research Centre of Cochlear Implant,Shanghai 200031,China
ENT Institute and Otorhinolaryngology Department of Eye & ENT Hospital,State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science,Fudan University,Shangha
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国家自然科学基金国家自然科学基金Original Scientific Research Supporting Program of Fudan University,Shanghai Municipal Key Clinical SpecialtyShanghai Science and Technology Committee(Shanghai Clinical Medical Research Center for Otorhinolaryngology)
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