Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation

Meifen Wang; Zhikuan Cun; Junchao Peng; Rui Chen; Jiwei Li

doi:10.1038/s41430-022-01072-y

Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation

Eur J Clin Nutr. 2022 Jul;76(7):1041-1043. doi: 10.1038/s41430-022-01072-y. Epub 2022 Jan 18.

Authors

Meifen Wang^{1

2}, Zhikuan Cun¹, Junchao Peng¹, Rui Chen¹, Jiwei Li^{3

4}

Affiliations

¹ Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Kunming, China.
² Yunnan Key Laboratory of Children's Major Disease Research, Kunming, China.
³ Yunnan Key Laboratory of Children's Major Disease Research, Kunming, China. 360623155@qq.com.
⁴ Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Kunming, China. 360623155@qq.com.

PMID: 35043011
DOI: 10.1038/s41430-022-01072-y

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

GTP-Binding Protein gamma Subunits
NOTCH2 protein, human
Receptor, Notch2