Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.

具有杂合错义 NOTCH2 突变的 2 型先天性全身性脂肪营养不良。

• 影响指数: 4.884
• 发表时间: 07 2022
• 来源期刊: Eur J Clin Nutr
• DOI: 10.1038/s41430-022-01072-y
• PMID: 35043011
• 文章类型: Case Reports
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Wang M,Cun Z,Peng J,Chen R,Li J

Mesh: GTP-Binding Protein gamma Subunits / genetics; Heterozygote; Humans; Lipodystrophy / congenital genetics; Lipodystrophy, Congenital Generalized / genetics; Mutation; Receptor, Notch2 / genetics

Abstract

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease with a prevalence of less than one in ten million. To our knowledge, ~500 cases, including 95% of BSCL2, have been reported in the literatures, but no types of CGL with NOTCH2 gene mutation has been described.

摘要

先天性广泛性脂肪营养不良（CGL）是一种罕见的常染色体隐性遗传疾病，患病率不到千分之一。据我们所知,~500例,包括95%的BSCL2，已在文献中报道，但是没有描述具有NOTCH2基因突变的CGL类型。