{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T09:12:52Z","timestamp":1790327572181,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,8,12]],"date-time":"2008-08-12T00:00:00Z","timestamp":1218499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital generalized lipodystrophy (CGL) is an autosomal recessive metabolic syndrome with involvement of multiple organs. Mutations in <jats:italic>BSCL2<\/jats:italic> are known to be associated with a severe form of CGL and mental retardation (MR). The genetic heterogeneity in CGL patients is accompanied by phenotypic heterogeneity in different ethnic groups. Studies in the Indian context are very few in this regard. We report here a detailed clinical analysis of a CGL case from infancy to adult hood. Interestingly, the patient was found to be homozygous for a novel <jats:italic>BSCL2<\/jats:italic> mutation, but with normal intellectual development contrasting with the MR associated with <jats:italic>BSCL2<\/jats:italic> mutation in CGL patients. The biochemical investigations at the time of diagnosis (9 months) included total cholesterol, total lipids, triglycerides, phospholipids, \u03b2\u2010lipoprotein and free fatty acids, which were above normal limits. The clinical phenotype, viz. lack of subcutaneous fat, hepatosplenomegaly, cardiomegaly, and advanced bone age was also documented. The patient was found to be insulin resistant and diabetes mellitus was diagnosed by age 13 years. Ultrasonography of the ovaries at age 22 showed polycystic features with elevated levels of gonadotropins and negligible levels of serum leptin. For genetic analysis, direct DNA sequencing of <jats:italic>BSCL2<\/jats:italic> was carried out and disclosed an 11\u2010base\u2010pair deletion in exon 6 (H217fsX272) resulting in a truncated protein. This is a novel mutation that contributes to CGL formation in a family of Indian origin and adds to the array of variants reported in this disorder. Moreover, the novel mutation is found to be associated with normal intellectual ability.<\/jats:p>","DOI":"10.1007\/s10545-008-0899-5","type":"journal-article","created":{"date-parts":[[2008,8,8]],"date-time":"2008-08-08T14:06:33Z","timestamp":1218204393000},"page":"317-322","source":"Crossref","is-referenced-by-count":10,"title":["Congenital generalized lipodystrophy in an Indian patient with a novel mutation in <i>BSCL2<\/i> gene"],"prefix":"10.1002","volume":"31","author":[{"given":"H. U.","family":"Shirwalkar","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Institute for Research in Reproductive Health (ICMR) Jehangir Merwanji Street Parel Mumbai 400 012 India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. M.","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetic Research Centre National Institute for Research in Reproductive Health Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Magre","sequence":"additional","affiliation":[{"name":"INSERM U 402, Faculty of Medicine St. Antonie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Hilbert","sequence":"additional","affiliation":[{"name":"Molecular Genetics Department Institute de Pathologie et de G\u00e9n\u00e9tique Gerpinnes Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. R.","family":"Mukhopadhyay","sequence":"additional","affiliation":[{"name":"Molecular Biology and Agriculture Development Laboratory Bhabha Atomic Research Centre Trombay Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Maitra","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Institute for Research in Reproductive Health (ICMR) Jehangir Merwanji Street Parel Mumbai 400 012 India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,8,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng880"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030855"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5508"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031211"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030485"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(99)00414-3"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra025261"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.75.2.358"},{"issue":"1","key":"e_1_2_5_10_1","first-page":"48","article-title":"Congenital lipodystrophy with defective leukocyte function (a case report)","volume":"36","author":"Kher AS","year":"1990","journal-title":"J Postgrad Med"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng585"},{"key":"e_1_2_5_12_1","first-page":"440","article-title":"Berardinelli\u2013Seip congenital lipodystrophy","volume":"43","author":"Mandal K","year":"2006","journal-title":"Indian Pediatr"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030835"},{"key":"e_1_2_5_14_1","unstructured":"Van MaldergemL(November2001)Berardinelli\u2013Seip congenital lipodystrophy.Orphanet Encyclopedia. Available from: URL:http:\/\/www.orpha.net\/data\/patho\/Pro\/en\/LipodystrophyBerardinelli\u2010FRenPro1007.pdf. Accessed 1 August 2008."},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.10.722"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0899-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:24:05Z","timestamp":1694751845000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0899-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,12]]},"references-count":14,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0899-5"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0899-5","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,12]]}}}