Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
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.
Heathcote
Kirsten
K
Medical Genetics Unit, Department of Child Health, St. George's Hospital Medical School, London, UK.
Rajab
Anna
A
Magré
Jocelyne
J
Syrris
Petros
P
Besti
Mehran
M
Patton
Michael
M
Délépine
Marc
M
Lathrop
Mark
M
Capeau
Jacqueline
J
Jeffery
Steve
S
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
D005819:Genetic Markers