{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:08:57Z","timestamp":1790370537685,"version":"4.1.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,5,9]],"date-time":"2013-05-09T00:00:00Z","timestamp":1368057600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Diagn Pathol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes <jats:italic>AGPAT2, BSCL2, CAV1<\/jats:italic> and <jats:italic>PTRF<\/jats:italic> have been assigned to each type.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family. For mutation screening all the coding exons including splice junctions of <jats:italic>AGPAT2, BSCL2, CAV1<\/jats:italic> and <jats:italic>PTRF<\/jats:italic> genes were PCR amplified and sequenced directly using an automated DNA sequencer ABI3730.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Sequence analysis revealed a single base pair deletion mutation (c.636delC; p.Tyr213ThrfsX20) in exon 5 of <jats:italic>BSCL2<\/jats:italic> gene causing a frame shift and premature termination codon.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Mutation identified here in <jats:italic>BSCL2<\/jats:italic> gene causing congenital generalized lipodystrophy is the first report in Pakistani population. The patients exhibited characteristic features of generalized lipodystrophy, Acanthosis nigricans, diabetes mellitus and hypertrophic cardiomyopathy.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Virtual Slides<\/jats:title>\n            <jats:p>The virtual slide(s) for this article can be found here: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.diagnosticpathology.diagnomx.eu\/vs\/1913913076864247\" ext-link-type=\"uri\">http:\/\/www.diagnosticpathology.diagnomx.eu\/vs\/1913913076864247<\/jats:ext-link>.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1746-1596-8-78","type":"journal-article","created":{"date-parts":[[2013,5,9]],"date-time":"2013-05-09T10:14:35Z","timestamp":1368094475000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family"],"prefix":"10.1186","volume":"8","author":[{"given":"Obaid Ur","family":"Rahman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadeem","family":"Khawar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Aman","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawad","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Khattak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jumana Yousuf","family":"Al-Aama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Musharraf","family":"Jelani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,5,9]]},"reference":[{"issue":"10","key":"760_CR1","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1136\/jmg.39.10.722","volume":"39","author":"L Van Maldergem","year":"2002","unstructured":"Van Maldergem L, Magre J, Khallouf TE, Gedde-Dahl T, Delepine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F: Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. 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