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Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation

European Journal of Clinical Nutrition volume 76, pages 1041–1043 (2022)Cite this article

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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.

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Fig. 1: Clinical features of the girl with type 2 CGL.
Fig. 2: Type 2 CGL with mutations in the BSCL2 gene and NOTCH2 gene.

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Funding

This work was supported by the Kunming “Spring City Plan” high-level talent training project, Kunming municipal government “spring city famous doctor” special project [grant number 2020-23]; Kunming Science and technology planning project [grant number 2019-1-S-25318000001139]; Kunming health and Family Planning Commission Project [grant number 2019-SW-33]; Yunnan Province’s reserve medical talents project [grant number H-2019002]; Kunming Medical University Applied Basic Research Joint Special Project [grant number 202001AY070001-170].

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Authors and Affiliations

  1. Department of Infectious Diseases, Kunming Children’s Hospital, The Affiliated Children’s Hospital of Kunming Medical University, Kunming, China

    Meifen Wang, Zhikuan Cun, Junchao Peng & Rui Chen

  2. Yunnan Key Laboratory of Children’s Major Disease Research, Kunming, China

    Meifen Wang & Jiwei Li

  3. Department of Pathology, Kunming Children’s Hospital, The Affiliated Children’s Hospital of Kunming Medical University, Kunming, China

    Jiwei Li

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  1. Meifen Wang
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  2. Zhikuan Cun
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Contributions

Collected sample: MW and ZC. Performed the experiments: MW, JP, RC, and JL. Wrote and revised the paper: JL and MW.

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Correspondence to Jiwei Li.

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Wang, M., Cun, Z., Peng, J. et al. Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation. Eur J Clin Nutr 76, 1041–1043 (2022). https://doi.org/10.1038/s41430-022-01072-y

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  • DOI: https://doi.org/10.1038/s41430-022-01072-y

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