Publication:

Prevalence of congenital non syndromic hearing loss among offspring of consanguineous marriage: a pilot study

Background Mutations in the gene encoding the gap-junction protein connexin-26, is understood to be the most important cause of non-syndromic hearing loss (NSHL). An attempt to identify the single nucleotide polymorphism (SNP) for W24X mutation was done.  Consanguineous marriage was seen among the NSHL subjects.

Methods SNP was identified using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR).  Forty-five subjects were screened for congenital hearing loss. Twenty subjects matched the inclusion criteria and were included in the study.

Results 5 out of 20 subjects were found to have mutation i.e., 25%. Though consanguinity is known to cause autosomal recessive defect, the same could not be depicted in this study.

Conclusions 25% of the study population had a mutation in their gene and the rest though had consanguineous marriage had not been affected genotypically.