02. Mapping of DFNB3/MYO15A in Punjabi families with non-syndromic congenital deafness

Abstract

Deafness is inherited most commonly following autosomal recessive mode of inheritance as isolated clinical finding .Genetic and clinical heterogeneity of disorder prevent pooling of affected families and is a big barrier in gene mapping by conventional techniques. However, because of consanguinity, linkage analysis can be used to find disease causing loci /genes in small nuclear families. This study demonstrates the power of this technique by identifying two families segregating their disease phenotype with DFNB3/MYO15A.

http://dx.doi.org/10.19045/bspab.2015.42002