Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation
| Autor: | Srisailapathy C. R. Srikumari, Rajagopalan Ramakrishnan, Murugesan Kalaimathi, N. P. Karthikeyen, Paridhy Vanniya. S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Adult Male Hearing loss Population Cadherin Related Proteins India Deafness Cohort Studies 03 medical and health sciences Young Adult 0302 clinical medicine Gene Frequency otorhinolaryngologic diseases Genetics medicine Missense mutation Humans Allele education Allele frequency Genetics (clinical) Alleles Aged education.field_of_study biology Assortative mating Middle Aged Cadherins Pedigree 030104 developmental biology Cohort Mutation biology.protein Female medicine.symptom 030217 neurology & neurosurgery GJB6 |
| Zdroj: | Annals of human genetics. 82(2) |
| ISSN: | 1469-1809 |
| Popis: | Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in individuals found to be heterozygous for CDH23 to determine whether there was a second pathogenic allele. In our study, 19 variants including 6 pathogenic missense mutations were identified. The allelic frequency of pathogenic mutations accounts to 4.7% in our cohort, which is higher than that reported previously; three mutations (c.429+4G>A, c.2968G>A, and c.5660C>T) reported in the previous Indian study were found to recur. DFNB12 was found to be the etiology in 3.4% of our cohort, with missense mutation c.2968G>A (p.Asp990Asn) being the most prevalent (2.6%). These results suggest a need to investigate the possibility for higher proportion of CDH23 mutations in the South Indian hearing-impaired population. |
| Databáze: | OpenAIRE |
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