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Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
- Source :
- Scopus-Elsevier
-
Abstract
- Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown. In the present study, we analyzed 45 Indian families belonging to three different states, namely, Karnataka, Tamil Nadu, and Delhi with non-syndromic hearing impairment and an apparently autosomal recessive mode of inheritance. All the families were initially screened for three mutations (W24X, W77X, and Q124X) by using allele-specific PCR primers; mutations were confirmed by DNA sequencing. Families that were heterozygous or negative for tested mutations of the GJB2 gene were sequenced directly to identify the complementary mutation and other mutations in GJB2. Four families were homozygous for W24X, constituting around 8.8%. In two families, the affected individuals were compound heterozygotes for W24X; one family (DKB16) carried 35delG with W24X while the other family (DKB7) carried R143W with W24X. We suggest that W24X is a common allele among the mutations screened, causing autosomal recessive non-syndromic hearing impairment (ARNSHI) in the Indian population.
- Subjects :
- Male
Hearing loss
DNA Mutational Analysis
India
Genes, Recessive
Biology
medicine.disease_cause
Compound heterozygosity
Genetic determinism
DNA sequencing
Connexins
Nuclear Family
Gjb2 gene
Consanguinity
otorhinolaryngologic diseases
medicine
Humans
Genetic Testing
Allele
Gene
Hearing Disorders
Genetics (clinical)
Alleles
Genetics
Mutation
Genetic Carrier Screening
Homozygote
Syndrome
Pedigree
Connexin 26
Female
medicine.symptom
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Scopus-Elsevier
- Accession number :
- edsair.doi.dedup.....50361a40f6fd17d7b7dce3e6ffd16e73