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

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Serveaux Dancer, M. | Marmontel, O. | Wozny, A. S. | Marcais, C. | Mahl, M. | Dumont, S. | Simonet, T. | Moulin, P. | Di Filippo, M. | Charrière, S.

Edité par CCSD ; Elsevier -

International audience. 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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