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,*
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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August 2019
Vol. 51, Iss. 4, Pages 1203-1598
