A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.

Abstract	A patient from Romania with extraordinarily high total cholesterol levels and clinical and biochemical features consistent with familial lecithin-cholesterol acyltransferase deficiency is reported. The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate. The same mutation, also in homozygosis, was observed in her older sister, whereas his brother presented it in heterozygosis.
Authors	David Rial-Crestelo, Ildefonso Santos-Recuero, Josep Julve, Francisco Blanco-Vaca, Miguel Torralba
Journal	Journal of clinical lipidology (J Clin Lipidol) 2017 Nov - Dec Vol. 11 Issue 6 Pg. 1475-1479.e3 ISSN: 1933-2874 [Print] United States
PMID	28942093 (Publication Type: Case Reports, Journal Article)
Copyright	Copyright © 2017 National Lipid Association. Published by Elsevier Inc. All rights reserved.
Chemical References	Acyltransferases lecithin-retinol acyltransferase
Topics	Acyltransferases (genetics) Adult Female Humans Hyperlipidemias (genetics, pathology) Lecithin Cholesterol Acyltransferase Deficiency (genetics, physiopathology) Mutation Pregnancy Pregnancy Complications, Cardiovascular (genetics, physiopathology)

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