{"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":1790327572631,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:sec><jats:title>Context<\/jats:title><jats:p>Congenital generalized lipodystrophy (CGL) is a rare and heterogeneous disease of autosomal recessive inheritance. Until now, no genetic findings had been reported in Chinese patients with CGL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To analyze Berardinelli-Seip congenital lipodystrophy type 2 (<jats:italic>BSCL2<\/jats:italic>) and 1-acylglycerol-3-phosphate O-acyltransferase 2 (<jats:italic>AGPAT2<\/jats:italic>) gene variation in a Chinese boy with CGL and his family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, setting, and participants<\/jats:title><jats:p>All exons of <jats:italic>BSCL2<\/jats:italic> and <jats:italic>AGPAT2<\/jats:italic> with adjacent intron\u2013exon junctions were analyzed using direct sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main outcome measures<\/jats:title><jats:p>Sequences of each exon and nearby intron of the <jats:italic>BSCL2<\/jats:italic> and <jats:italic>AGPAT2<\/jats:italic> genes of the family members were compared with the gene bank genomic sequences.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>DNA sequence analysis of the entire coding regions and surrounding uncoding regions disclosed a novel homozygous G\u2192T mutation at nucleotide 909 in exon 5 of the <jats:italic>BSCL2<\/jats:italic> gene in the affected child. A heterozygous state of the G\u2192T mutation of the <jats:italic>BSCL2<\/jats:italic> gene was also found in other family members. This mutation predicts the substitution of glutamic acid at codon 189 by the stop codon (Glu189X or E189X). No variation was found in the <jats:italic>AGPAT2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>E189X is a novel <jats:italic>BSCL2<\/jats:italic> gene mutation that contributes to CGL formation in a family of Chinese origin.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-07-0393","type":"journal-article","created":{"date-parts":[[2007,12,6]],"date-time":"2007-12-06T00:32:58Z","timestamp":1196901178000},"page":"783-787","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":16,"title":["Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus"],"prefix":"10.1093","volume":"157","author":[{"given":"Jing","family":"Jin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingfeng","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuhui","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuixian","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wieland","family":"Kiess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dijing","family":"Zhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruoqian","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feihong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/157\/6\/783.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/157\/6\/783.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:20:42Z","timestamp":1676391642000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/157\/6\/783\/6695980"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12]]},"references-count":0,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/eje-07-0393","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12]]}}}