Molecular Analysis of Berardinelli-Seip Congenital Lipodystrophy in Oman
Author:
Heathcote Kirsten1, Rajab Anna2, Magré Jocelyne3, Syrris Petros1, Besti Mehran1, Patton Michael1, Délépine Marc4, Lathrop Mark4, Capeau Jacqueline3, Jeffery Steve1
Affiliation:
1. Medical Genetics Unit, Department of Child Health, St. George’s Hospital Medical School, London, U.K. 2. Medical Genetics Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, Oman 3. Faculté de Médecine Saint-Antoine, Université Pierre et Marie Curie, Paris, France 4. Centre National de Génotypage, Paris, France
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.
Publisher
American Diabetes Association
Subject
Endocrinology, Diabetes and Metabolism,Internal Medicine
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