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Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman - Evidence for multiple loci

Heathcote, K; Rajab, A; Magre, J; Syrris, P; Besti, M; Patton, M; ... Jeffery, S; + view all (2002) Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman - Evidence for multiple loci. DIABETES , 51 (4) 1291 - 1293.

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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.

Type:Article
Title:Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman - Evidence for multiple loci
Keywords:FAMILIAL PARTIAL LIPODYSTROPHY, LAMIN A/C, MUTATIONS, GENE
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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