Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient

Risultato della ricerca: Articlepeer review

2 Citazioni (Scopus)

Abstract

AbstractCONTEXT: 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).OBJECTIVE: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.RESULTS: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent episodes of pancreatitis. The mutation causes a G>A substitution in exon 9 (c.1395G>A), leading to a premature stop codon (W464X). LPL activity and mass were reduced by 76 and 50%, respectively, compared with normolipidemic controls. The proband over the years has shown a good response to treatment. The proband's son, heterozygous for the W464X, shows normal plasma triglyceride levels.CONCLUSIONS: We identified the second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia. LPL deficiency in our patient was milder than in the carrier of the Y439X previously described.
Lingua originaleEnglish
pagine (da-a)21-25
Numero di pagine5
RivistaDermatologic Therapy
Volume2008
Stato di pubblicazionePublished - 2008

All Science Journal Classification (ASJC) codes

  • Dermatology

Fingerprint Entra nei temi di ricerca di 'Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient'. Insieme formano una fingerprint unica.

Cita questo