Open AccessNovel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia
Author(s) -
Angelo B. Cefalù,
Davide Noto,
Maria Luisa Arpi,
Fen Yin,
Rossella Spina,
H. Hilden,
Carlo M. Barbagallo,
Antonio Carroccio,
Patrizia Tarugi,
Sebastiano Squatrito,
Riccardo Vigneri,
MarjaRiitta Taskinen,
Miklós Péterfy,
Maurizio Averna
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-0594
Subject(s) - nonsense mutation , hypertriglyceridemia , lipoprotein lipase , proband , endocrinology , medicine , nonsense , genetics , mutation , biology , triglyceride , gene , missense mutation , cholesterol , adipose tissue
Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).