{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:11:20Z","timestamp":1792152680006,"version":"4.4.0"},"reference-count":8,"publisher":"American Diabetes Association","issue":"4","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2002,4,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.2337\/diabetes.51.4.1291","type":"journal-article","created":{"date-parts":[[2007,3,6]],"date-time":"2007-03-06T19:04:22Z","timestamp":1173207862000},"page":"1291-1293","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":24,"title":["Molecular Analysis of Berardinelli-Seip Congenital Lipodystrophy in Oman"],"prefix":"10.2337","volume":"51","author":[{"given":"Kirsten","family":"Heathcote","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Department of Child Health, St. George\u2019s Hospital Medical School, London, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rajab","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyne","family":"Magre\u0301","sequence":"additional","affiliation":[{"name":"Faculte\u0301 de Me\u0301decine Saint-Antoine, Universite\u0301 Pierre et Marie Curie, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Child Health, St. George\u2019s Hospital Medical School, London, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehran","family":"Besti","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Child Health, St. George\u2019s Hospital Medical School, London, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Patton","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Child Health, St. George\u2019s Hospital Medical School, London, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"De\u0301le\u0301pine","sequence":"additional","affiliation":[{"name":"Centre National de Ge\u0301notypage, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Lathrop","sequence":"additional","affiliation":[{"name":"Centre National de Ge\u0301notypage, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Capeau","sequence":"additional","affiliation":[{"name":"Faculte\u0301 de Me\u0301decine Saint-Antoine, Universite\u0301 Pierre et Marie Curie, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Jeffery","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Child Health, St. George\u2019s Hospital Medical School, London, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1167","reference":[{"key":"2022031223000979700_R1","doi-asserted-by":"crossref","unstructured":"Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O\u2019Rahilly S, Taylor SI, Patel SB, Bowcock AM: A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab\u200884:3390\u20133394,1999","DOI":"10.1210\/jcem.84.9.6103"},{"key":"2022031223000979700_R2","doi-asserted-by":"crossref","unstructured":"Magre\u0301 J, De\u0301le\u0301pine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d\u2019Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O\u2019Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J: Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. 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Diabetes\u200849:1958\u20131962,2000","DOI":"10.2337\/diabetes.49.11.1958"},{"key":"2022031223000979700_R8","doi-asserted-by":"crossref","unstructured":"Peterfy M, Phan J, Xu P, Reue K: Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. 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