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Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia

Abstract : Severe hypertriglyceridemia (HTG), characterized by triglycerides (TG) permanently over 10 mmol/L, may correspond to familial chylomicronemia syndrome (FCS), a rare disorder. However, hypertriglyceridemic patients more often present multifactorial chylomicronemia syndrome (MCS), characterized by highly variable TG. A few nonsense variants of LMF1 gene were reported in literature in FCS patients. In this study, we described a woman with an intermittent severe HTG. NGS analysis and the sequencing of a long range PCR product revealed a homozygous deletion of 6507 base pairs in LMF1 gene, c.730-1528\₈98-3417del, removing exon 6, predicted to create an in-frame deletion of 56 amino acids, p.(Thr244_Gln299del). Despite an exon 6 homozygous deletion of LMF1, the patient's highly variable lipid phenotype was suggestive of MCS diagnosis.
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https://www.hal.inserm.fr/inserm-03269078
Contributor : Laboratoire Carmen <>
Submitted on : Wednesday, June 23, 2021 - 4:35:26 PM
Last modification on : Tuesday, July 20, 2021 - 5:03:48 PM

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M. Serveaux Dancer, O. Marmontel, A. S. Wozny, C. Marcais, M. Mahl, et al.. Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia. Journal of clinical lipidology, Elsevier, 2020, 14 (6), pp.756--761. ⟨10.1016/j.jacl.2020.09.004⟩. ⟨inserm-03269078⟩

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