Screening for mutation hotspots in Bardet–Biedl syndrome patients from India

• DOI: 10.4103/ijmr.ijmr_1822_15
• Publication Date: 2018-05-25T08:59:35Z
• Authors: Sathya Priya Chan...; Sheela Namboothiri; Parveen Sen; Sripriya Sarangapani
• Keywords: Bardet–Biedl Syndrome; Disease gene identification

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS genes narrowed down homozygosity mapping small consanguineous non-consanguineous pedigrees were reported 80 per cent of the study population. This was aimed to screen these (BBS3, BBS10) specific exons (BBS1, BBS5, MKKS, BBS9, BBS11 BBS12) for recurrent selected sample patients.The screened affected individuals PCR based direct sequencing. The pathogenicity observed confirmed co-segregation analysis, screening healthy unrelated controls silico analysis.In 64 patients (44 males, 20 females) studied, predominant BBS10 ARL6 genes; c.272T>C; p.(I91T) mutation gene mutation. One novel non-sense c.425T>G; p(L142FNx01) obtained BBS5 (family BSI-31).BBS10 clustered exon 2 suggesting as probable hotspot Indian A cost- time-effective strategy molecular diagnosis designed on results.