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Journal of Biomedicine and Biotechnology
Volume 2011, Article ID 304612, 11 pages
Research Article

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

1Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad 44000, Pakistan
2Department of Biosciences, COMSATS Institute of Information Technology, Islamabad 44000, Pakistan
3Research and Development Section, Higher Education Commission, Islamabad 44000, Pakistan

Received 20 October 2010; Revised 21 December 2010; Accepted 4 February 2011

Academic Editor: Susan Blanton

Copyright © 2011 Hina Iqbal et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Nonsyndromic hearing loss is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness and nonsyndromic nearing loss. We studied a Pakistani consanguineous family. Clinical examinations of affected individuals did not reveal the presence of any associated signs, which are hallmarks of the Bartter syndrome type IV. Linkage analysis identified an area of 18.36 Mb shared by all affected individuals between markers D1S2706 and D1S1596. A maximum two-point LOD score of 2.55 with markers D1S2700 and multipoint LOD score of 3.42 with marker D1S1661 were obtained. BSND mutation, that is, p.I12T, cosegregated in all extant members of our pedigree. BSND mutations can cause nonsyndromic hearing loss, and it is a second report for this mutation. The respected protein, that is, BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools; finally, this protein and its mutant was docked with CLCNKB and REN, interactions of BSND, respectively.