Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.

ABSTRACT:

Background & objectives

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 by homozygosity mapping in small consanguineous and non-consanguineous pedigrees were reported in 80 per cent of the study population. This study was aimed to screen these genes (BBS3, BBS10) and specific exons of BBS genes (BBS1, BBS5, MKKS, BBS9, BBS11 and BBS12) for recurrent mutations in a selected sample of BBS patients.

Methods

The recurrent mutations in BBS genes were screened in the BBS affected individuals by PCR based direct sequencing. The pathogenicity of the observed mutations were confirmed by co-segregation analysis,

SUBMITTER: Chandrasekar SP 

PROVIDER: S-EPMC5991121 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature