High incidence of m>BSCL2m> intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome

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• 作者：Nelson Purizaca-Rosillo ; Takayasu Mori ; Yamali Benites-Có ; ndor ; Fuki M. Hisama ; George M. Martin and Junko Oshima
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：173
• 期：2
• 页码：471-478
• 全文大小：786K
• ISSN：1552-4833

文摘

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 m>BSCL2m> 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.