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Ullah, A.* ; Umair, M. ; Yousaf, M.* ; Khan, S.A.* ; Nazim-Ud-Din, M.* ; Shah, K.* ; Ahmad, F.* ; Azeem, Z.* ; Ali, G.* ; Alhaddad, B. ; Rafique, A.* ; Jan, A.* ; Haack, T.B. ; Strom, T.M. ; Meitinger, T. ; Ghous, T.* ; Ahmad, W.*

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Mol. Vis. 23, 482-494 (2017)
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Purpose: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Paki­stani origin. Methods: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. Results: Sanger sequencing revealed two novel mutations and three previously reported mutations in the BBS genes. These mutations include two deletions (c.580_582delGCA, c.1592_1597delTTCCAG) in the BBS7 gene, a missense mutation (p.Gln449His) in the BBS8 gene, a frameshift mutation (c.271_272insT) in the BBS10 gene, and a nonsense mutation (p.Ser40*) in the MKKS (BBS6) gene. Conclusions: Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing BBS.
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2017
HGF-reported in Year 2017
ISSN (print) / ISBN 1090-0535
e-ISSN 1090-0535
Journal Molecular Vision
Quellenangaben Volume: 23, Issue: , Pages: 482-494 Article Number: , Supplement: ,
Publisher Sun Yat-sen University, P.R. China
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
WOS ID WOS:000406491500001
Scopus ID 85025693417
PubMed ID PMC5524433
Erfassungsdatum 2017-09-08
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