Zur Frage der Vererbung des Bardet-Biedl-Syndroms (BBS) - Molekulargenetische Analysen in den Genen BBS1 und BBS6

Mit einer geschätzten Prävalenz von 1:150.000 in der europäischen Bevölkerung ist das Bardet-Biedl-Syndrom (BBS, OMIM 209900) eine selten vorkommende Multisystemerkrankung. Die Vererbung ist autosomal-rezessiv. Die BBS-Proteine sind an der Funktion von Zilien und Basalkörpern beteiligt. Phänotypisch...

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Bibliographic Details
Main Author: Frick, Benjamin S.
Contributors: Koch, Manuela C. (Prof. Dr.) (Thesis advisor)
Format: Dissertation
Published: Philipps-Universität Marburg 2005
Online Access:PDF Full Text
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Table of Contents: With an estimated prevalence of 1:150.000 in the European population the Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare multisystemic disorder. The syndrome is autosomal recessively inherited and affects cilia and basal body function in multiple organ systems. The phenotype is characterized by the association of postaxial polydactyly, retinopathy, obesity, hypogonadism in males, renal dysfunction and variable mental deficiency. Over the past years it has become obvious that BBS is genetically heterogeneous with several genes (BBS1-BBS8) involved. For clinical manifestation mutations in more than one BBS-locus are needed. Therefore, BBS is now regarded as a disorder with digenic or even oligogenic inheritance.