Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia – Case Report and Literature Review-Reference-Cited by-同舟云学术

Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia – Case Report and Literature Review

Published:2024-07-01 Issue:7 Volume:31 Page:1106-1111
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Cao Conghui¹,Liu Yuqi¹,Liu Lu¹,Wang Xiaoli¹

Affiliation:

1. Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University

Publisher

Japan Atherosclerosis Society

Link

https://www.jstage.jst.go.jp/article/jat/31/7/31_64697/_pdf

Reference24 articles.

1. 1) Dron JS, Wang J, Cao H, McIntyre AD, Iacocca MA, Menard JR, Movsesyan I, Malloy MJ, Pullinger CR, Kane JP and Hegele RA: Severe hypertriglyceridemia is primarily polygenic. J Clin Lipidol, 2019; 13: 80-88

2. 2) Dron JS and Hegele RA: Genetics of Hypertriglyceridemia. Frontiers in endocrinology, 2020; 11: 455

3. 3) Peterfy M: Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. Biochim Biophys Acta, 2012; 1821: 790-794

4. 4) Hegele RA, Berberich AJ, Ban MR, Wang J, Digenio A, Alexander VJ, D’Erasmo L, Arca M, Jones A, Bruckert E, Stroes ES, Bergeron J, Civeira F, Witztum JL and Gaudet D: Clinical and biochemical features of different molecular etiologies of familial chylomicronemia. J Clin Lipidol, 2018; 12: 920-927 e924

5. 5) Péterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P and Doolittle MH: Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet, 2007; 39: 1483-1487

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