1. Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia
- Author
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Mathilde Di Filippo, Muriel Mahl, Sybil Charrière, Anne-Sophie Wozny, Oriane Marmontel, Philippe Moulin, C. Marcais, Thomas Simonet, Marine Serveaux Dancer, Sabrina Dumont, CarMeN, laboratoire, Hospices Civils de Lyon (HCL), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Lyon, Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA), Centre de Recherche en Nutrition Humaine Rhône-Alpes (CRNH-RA), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Grenoble Alpes (UGA), Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] (Centre de Biologie et de Pathologie), and Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Grenoble Alpes (UGA)
- Subjects
medicine.medical_specialty ,Severe hypertriglyceridemia ,Endocrinology, Diabetes and Metabolism ,media_common.quotation_subject ,[SDV]Life Sciences [q-bio] ,Nonsense ,Pcr cloning ,030204 cardiovascular system & hematology ,03 medical and health sciences ,Exon ,0302 clinical medicine ,Internal medicine ,Internal Medicine ,medicine ,Multifactorial chylomicronemia syndrome ,Humans ,030212 general & internal medicine ,Copy-number variation ,Gene ,media_common ,Sequence Deletion ,Hypertriglyceridemia ,Nutrition and Dietetics ,business.industry ,Homozygote ,Triglyceride ,Membrane Proteins ,Exons ,medicine.disease ,Phenotype ,3. Good health ,[SDV] Life Sciences [q-bio] ,Lipolysis ,Endocrinology ,Familial chylomicronemia syndrome ,Female ,Cardiology and Cardiovascular Medicine ,business ,Copy number variation ,lmf1 - Abstract
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.
- Published
- 2020
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