Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients
نویسندگان
چکیده
Tina Duelund Hjortshøj,* Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Adebowale Adeyemo, Charles N. Rotimi, Val C. Sheffield, Thomas Rosenberg, and Karen Brøndum-Nielsen Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark Department of Paediatrics, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa Department of Ophthalmology, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa National Human Genome Center, Howard University, Washington, District of Columbia Kennedy Center, National Eye Clinic, Hellerup, Denmark
منابع مشابه
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
BACKGROUND Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaper...
متن کاملThe BBSome
What is the BBSome? The BBSome (pronounced bee-bee-zome) is a stable protein complex that functions in primary cilium biogenesis. The BBSome was discovered in 2007 by biochemical purification of BBS4containing complexes from mammalian cells and is composed of seven highly conserved Bardet–Biedl Syndrome (BBS) proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9) as well as a novel protein, BBI...
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 کاملThe First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-19. In Western countries, this disease is often reported, but remains undiagnosed in many patients until later in life, while only a few patients with ...
متن کاملEvaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 ...
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ورودعنوان ژورنال:
- American Journal of Medical Genetics. Part a
دوره 146A شماره
صفحات -
تاریخ انتشار 2008