期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 173, 期 2, 页码 471-478出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.38053
关键词
Berardinelli-Seip syndrome; BSCL2; congenital generalized lipodystrophy; molecular genetics; Mendelian disease
资金
- NIH [R24AG42328, R01CA210916]
- Grants-in-Aid for Scientific Research [17H04037] Funding Source: KAKEN
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation. This intragenic deletion appeared to be mediated by recombination between Alu sequences in introns 2 and 3. CGL2 in this population is likely underdiagnosed and undertreated because of its geographical, socio-economic, and cultural isolation.(c) 2016 Wiley Periodicals, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据