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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

 

Fig. 1.

A, pedigree of family (MR20) showing autosomal recessive inheritance, while red arrow indicates the affected individual for whom WES was done. B, affected individual IV-1, having typical features of BBS syndrome including hypertelorism, eyes exotropia and a flat nasal bridge. C, dorsal view of hands showing polydactyly in right hand while polydactyly and syndactyly is clearly visible in left hand. D, dorsal view of feet having polydactyly in both. E, typical BBS facial features shown by affected individual IV-2, having flat nasal bridge, poor eye sight, intellectual disability and small mouth. F, dorsal and palmar view of hands, and having post axial polydactyly in left hand. G, feet of affected individual IV-4, showing obesity and polydactyly in left foot. H, homozygous mutation in the patient IV-1 showing splice acceptor site change G>A on position 167. I, heterozygygous carrier and J, homozygous Normal.

Pakistan Journal of Zoology

October

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

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