title: Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
abstract: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the absence of body fat and insulin resistance and accompanied by other features, including acanthosis nigricans, organomegaly, hyperandrogenism, and diabetes. We have examined case subjects from 11 families in Oman with CGL. All subjects were the progeny of consanguineous marriages; therefore, a homozygosity mapping strategy was used to investigate the reported loci, 11q13 and 9q34. Three subjects could be linked to 11q13, and mutations were found within the seipin gene. An additional eight subjects were linked to 9q34, but the locus was in a 9-cM interval with no known microsatellites, so further fine mapping was not possible. However, two sibships (four subjects) did not map to either locus, raising the possibility of more than two lipodystrophy loci within the Oman population.
authors.affiliation: Medical Genetics Unit, Department of Child Health, St. George's Hospital Medical School, London, UK.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Heathcote
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Magré
authors.forename: Petros
authors.initials: P
authors.lastname: Syrris
authors.forename: Mehran
authors.initials: M
authors.lastname: Besti
authors.forename: Michael
authors.initials: M
authors.lastname: Patton
authors.forename: Marc
authors.initials: M
authors.lastname: Délépine
authors.forename: Mark
authors.initials: M
authors.lastname: Lathrop
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Capeau
authors.forename: Steve
authors.initials: S
authors.lastname: Jeffery
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D002899:Chromosomes, Human, Pair 9; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008060:Lipodystrophy / Q000151:congenital / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009850:Oman; D010375:Pedigree
chemical_list: D005819:Genetic Markers