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

© 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.