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

David Rial-Crestelo, Ildefonso Santos-Recuero, Josep Julve, Francisco Blanco-Vaca, Miguel Torralba

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

Abstract

© 2017 National Lipid Association 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.
Original languageEnglish
Pages (from-to)1475-1479.e3
JournalJournal of Clinical Lipidology
Volume11
Issue number6
DOIs
Publication statusPublished - 1 Nov 2017

Keywords

  • Genetic analysis
  • Inherited HDL deficiency
  • Kidney disease
  • LCAT deficiency
  • Lipoprotein X
  • Molecular diagnosis

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