Gene and Phenotype Analysis of Congenital Generalized Lipodystrophy in Japanese: A Novel Homozygous Nonsense Mutation in Seipin Gene

Ken Ebihara, Toru Kusakabe, Hiroaki Masuzaki, Nozomi Kobayashi, Tomohiro Tanaka, Hideki Chusho, Fumiko Miyanaga, Takashi Miyazawa, Tatsuya Hayashi, Kiminori Hosoda, Yoshihiro Ogawa, Kazuwa Nakao

研究成果: ジャーナルへの寄稿学術誌査読

45 被引用数 (Scopus)

抄録

Congenital generalized lipodystrophy (CGL), Berardinelli-Seip syndrome, is a rare metabolic disorder characterized by a near total lack of adipose tissue from birth or early infancy. Recently, seipin, encoding a 398-amino acid protein of unknown function, and AGPAT2, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase 2, were identified as causative genes for CGL. Seipin mutations were found in patients from families originating from Europe and the Middle East. AGPAT2 mutations were found predominantly in African ancestry. However, no information is available on these genes in the pathogenesis of CGL in Asian ancestry. We examined the sequences of the entire coding region of seipin and AGPAT2 in four Japanese CGL patients from independent families. Their average body fat content was 4.7 ± 0.5%, and the plasma leptin level was 1.15 ± 0.14 ng/ml. We identified a novel nonsense mutation of seipin at codon 275 (R275X). Of four CGL patients, three were homozygous for R275X. No seipin mutation was found in any exon in one patient. We did not find any AGPAT2 mutations in our Japanese patients, suggesting that AGPAT2 is a minor causative gene, if any, for CGL in Japanese. This is the first report on gene and phenotype analysis of CGL in Japanese.

本文言語英語
ページ(範囲)2360-2364
ページ数5
ジャーナルJournal of Clinical Endocrinology and Metabolism
89
5
DOI
出版ステータス出版済み - 5月 2004
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学
  • 生化学
  • 内分泌学
  • 臨床生化学
  • 生化学、医学

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