Proceedings of the 1st Liaquat University of Medical & Health Sciences (LUMHS) International Medical Research Conference

Abstract

Hereditary hearing impairment is one of the common monogenic disorder in Pakistan. It is estimated that around 0.16% peoples have moderate to profound prelingual hearing loss while one-third of people above 60 years have some sort hearing problem. I had enrolled 150 families with prelingual hearing loss. Initial screening of these families was done by genotyping reported loci with fluorescently labelled STR markers. Families showing linkage with specific loci was confirmed by NGS based platforms like OtoSeqand Sanger sequencing. Combination of these techniques led towards the identification. Combination of these techniques led towards the identification of 34 pathogenic variants in GJB2, MYO7A, CDH23, MARVELD2 and POU3F4 in 40 families. Fifteen of these variants have not reported earlier. Families remain unlinked with reported loci were subjected for Genome wide scan, SNP analysis and exome sequencing. A novel deafness locus DFNB79 were mapped though GWS and three Novel gene GIPC3, TAPRN and NARS2 were identified by the combination of Linkage analysis and next generation exome sequencing. Using NGS based platforms like OtoSeq, GWS, SNP analysis and exome sequencing in families segregating hearing loss, will contribute to the identification of common and population specific mutations, early diagnosis, genetic counseling and molecular epidemiology.