title: Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
abstract: We report on the results of clinical investigation, pedigree analysis, mutation screening and haplotyping in a family with the syndrome of multiple cutaneous and uterine leiomyomas (MCUL1) and a germline missense mutation (R58P) in the fumarate hydratase gene (FH). We provide evidence for a founder effect for the identified mutation and distant relationship of our family to another familial case of MCUL1 associated with renal cell cancer, which was recently published with the same mutation.
authors.affiliation: Institute of Human Genetics, University of Leipzig, Medical Faculty, Leipzig, Germany. heinw@medizin.uni-leipzig.de
authors.forename: W
authors.initials: W
authors.lastname: Heinritz
authors.forename: U
authors.initials: U
authors.lastname: Paasch
authors.forename: M
authors.initials: M
authors.lastname: Sticherling
authors.forename: C
authors.initials: C
authors.lastname: Wittekind
authors.forename: J C
authors.initials: JC
authors.lastname: Simon
authors.forename: U G
authors.initials: UG
authors.lastname: Froster
authors.forename: R
authors.initials: R
authors.lastname: Renner
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D005649:Fumarate Hydratase / Q000235:genetics*; D018095:Germ-Line Mutation; D006239:Haplotypes; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D010375:Pedigree
chemical_list: D005649:Fumarate Hydratase