Author(s):
1. Ghazanfar Ali:
Department of Biotechnology, University of Azad Jammu and Kashmir,Muzaffarabad,Pakistan
2. Sadia:
Department of Biotechnology, University of Azad Jammu and Kashmir,Muzaffarabad,,Pakistan
3. Syeda Ain-ul-Batool:
Department of Biotechnology, University of Azad Jammu and Kashmir,Muzaffarabad,,Pakistan
Abstract:
Bardet-Biedl syndrome (BBS) is a rare autosomal recessively inherited disorder with major clinical symptoms such as: obesity, retinal degeneration, polydactyly and renal abnormalities. The aim of the study was to find out the disease causing variant/s in patients exhibiting clinical features of (BBS). The identification of pathogenic variant was performed by using whole exome sequencing on Illumina HiSeq 4000 platform involving the SeqCap EZ Exome v3 kit (Roche Nimblegen). The identified variant was further validated by Sanger sequencing. WES revealed a novel homozygous missense mutation (NM_031885:c.443A>T:p.N148I) in exon 3 of BBS2 gene. Sanger sequencing confirmed this mutation as homozygous in both affected individuals and heterozygous in both parents, demonstrating autosomal recessive mode of inheritance. To the best of our knowledge this variant was not present in literature and in publically available databases. The candidate variant is predicted to be disease causing by in silico analysis. Clinical and genetic spectrum of BBS and BBS-like phenotypes is not fully defined in Pakistani as well as in Kashmiri population. Therefore, more genetic studies are needed to gain insights into genotype-phenotype correlations to facilitate carrier screening and genetic counseling of families with such disorders.
Page(s):
0-0
DOI:
DOI not available
Published:
Journal: First International Conference on Revamped Scientific Outlook of 21st Century (Abstract Book), Volume: 0, Issue: 0, Year: 2022
Keywords:
insilico analysis
,
Exome sequencing
,
Ciliopathy
,
Kashmiri family
,
BardetBiedl syndrome
,
BBS2 gene
References:
References are not available for this document.
Citations
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