GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

Journal of genetics

P. V. Ramchander¹  U. V. Nandur²  T. Padma1³  G. Padma³ 

[1] Institute of Life Sciences, Nalco Square, Bhubaneswar 751 023, India$$;Government Ear, Nose and Throat Hospital, Koti, Hyderabad 500 195, India$$;Department of Genetics, Osmania University, Tarnaka, Hyderabad 500 007, India$$

关键词: deafness;    GJB2;    GJB6;    p.W24X mutation;    del(GJB6-D13S1830);    connexin;    human genetics.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

Genetically caused deafness is a common trait affecting one in 1000 children and is predominantly inherited in an autosomal-recessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. In the present study, 303 nonsyndromic hearing-impaired patients (140 familial; 163 sporadic) were examined clinically and screened for mutations in GJB2 and GJB6 genes. Mutations in GJB2 gene were found in 33 (10.9%) patients of whom six (18.2%) were carriers for the mutant allele. The most frequent mutation was p.W24X accounting for 87% of the mutant alleles. In addition, six other sequence variations were identified in the GJB2 gene viz., c.IVS1+1G>A, c.167delT, c.235delC, p.W77X, p.R127H (polymorphism), p.M163V. None of the samples showed del(GJB6-D13S1830) or any point mutations in GJB6 gene.

【 授权许可】

Unknown