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A Homozygous c.1131G>A Missense Mutation in BBS9 Gene Manifesting Autosomal Recessive Bardet-Biedl Syndrome in Consanguineous Kashmiri Family

A Homozygous c.1131G>A Missense Mutation in BBS9 Gene Manifesting Autosomal Recessive Bardet-Biedl Syndrome in Consanguineous Kashmiri Family

Syeda Ain-ul-Batool1, Sadia1, Kathrin Blasius2,3,4, Angela Kaindl2,3,4 and Ghazanfar Ali1,*

1Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan
2Institute for Neurobiology, Charite University of Berlin, Campus Mittle, P.O. Box 10117, Germany
3Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany
4Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité-Universitätsmedizin Berlin, Berlin, Germany

Ghazanfar Ali and Angela M. Kaindl contributed equally in this study.

*  Corresponding author: ali.phd.qau@gmail.com

 

ABSTRACT

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic genetic disorder in humans. It is a multisystem disorder and is principally described by visual abnormalities, con-rod dystrophy, eyes exotropia, obesity, polydactyly, hypogonadism, and renal abnormalities. Few additional features of BBS also include delayed motor development, clumsiness, anosomia, ataxia, hypodontia, hearing impairment, hirschsprung disease, cardiovascular and liver disorders. So far 21 genes are reported that cause BBS (BBS1-BBS21). A consanguineous family having clinical symptoms of BBS9 is described in current study. Mutation was detected in BBS9 on chromosome 7p14.3 using whole exome sequencing (WES). A splice acceptor site mutation (c.1131G>A) in exon 3 was revealed by Sanger sequencing.
 

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Pakistan Journal of Zoology

October

Vol. 51, Iss. 5, Pages 1599-1997

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