Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
نویسندگان
چکیده
Seok Joon Shin, M.D., Myungshin Kim, M.D., Hyojin Chae, M.D., Ahlm Kwon, M.T., Yonggoo Kim, M.D., Sung Jun Kim, M.D., Hye Eun Yoon, M.D., Dong Wook Jekarl, M.D., and Seungok Lee, M.D. Division of Nephrology, Department of Internal Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul; Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul; Department of Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul; Department of Laboratory Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
منابع مشابه
A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family
PURPOSE To describe the clinical features of and identify a novel mutation in Bardet-Biedl syndrome 7 gene (BBS7) in a Chinese family. METHODS Nineteen individuals at risk for inheriting Bardet-Biedl syndrome (BBS) in a Chinese family participated in the study. Physical examination was performed and blood was drawn for DNA extraction. Linkage analysis was conducted for all known BBS loci, and...
متن کاملSequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
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 sequencin...
متن کاملFBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome
Purpose This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS). Methods All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sange...
متن کاملA Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
متن کاملBBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1-BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8 and 9) form a complex known as the BBSome, which functions in ciliary membrane biogenesis. BBS7 is both a unique subunit of the BBSome and displays direct physical interaction with a second BBS complex, t...
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عنوان ژورنال:
دوره 35 شماره
صفحات -
تاریخ انتشار 2015