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

Gangadhar K. S., Geetha Bhaktha, Manjula B., Nageshwari P.
2020 International Journal of Otorhinolaryngology and Head and Neck Surgery  
<p class="abstract"><strong>Background:</strong> 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.</p><p class="abstract"><strong>Methods:</strong> SNP was identified using restriction fragment length polymorphism-polymerase chain reaction
more » ... in reaction (RFLP-PCR). Forty-five subjects were screened for congenital hearing loss. Twenty subjects matched the inclusion criteria and were included in the study.</p><p class="abstract"><strong>Results:</strong> 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.</p><p class="abstract"><strong>Conclusions:</strong> 25% of the study population had a mutation in their gene and the rest though had consanguineous marriage had not been affected genotypically.</p>
doi:10.18203/issn.2454-5929.ijohns20201677 fatcat:uwz2vptwaff7lo5yj7wl7jeqtu