 |
Journal articles
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.
https://www.hal.inserm.fr/inserm-03269078
Contributor : Laboratoire Carmen Connect in order to contact the contributor
Submitted on : Wednesday, June 23, 2021 - 4:35:26 PM
Last modification on : Wednesday, September 22, 2021 - 3:22:21 AM
Long-term archiving on: : Friday, September 24, 2021 - 6:56:29 PM
Contributor : Laboratoire Carmen Connect in order to contact the contributor
Submitted on : Wednesday, June 23, 2021 - 4:35:26 PM
Last modification on : Wednesday, September 22, 2021 - 3:22:21 AM
Long-term archiving on: : Friday, September 24, 2021 - 6:56:29 PM