Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.

Research output: Contribution to journalArticle


Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.


  • Nathan O Stitziel
  • Sigrid W Fouchier
  • Barbara Sjouke
  • Gina M Peloso
  • Alessa M Moscoso
  • Paul L Auer
  • Anuj Goel
  • Bruna Gigante
  • Timothy A Barnes
  • Stefano Duga
  • Suthesh Sivapalaratnam
  • Majid Nikpay
  • Nicola Martinelli
  • Domenico Girelli
  • Rebecca D Jackson
  • Charles Kooperberg
  • Leslie A Lange
  • Diego Ardissino
  • Ruth McPherson
  • Martin Farrall
  • Hugh Watkins
  • Muredach P Reilly
  • Daniel J Rader
  • Ulf de Faire
  • Heribert Schunkert
  • Jeanette Erdmann
  • Nilesh J Samani
  • Lawrence Charnas
  • David Altshuler
  • Stacey Gabriel
  • John J P Kastelein
  • Joep C Defesche
  • Aart J Nederveen
  • Sekar Kathiresan
  • G Kees Hovingh
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cardiac and Cardiovascular Systems
Original languageEnglish
Pages (from-to)2909-2914
JournalArteriosclerosis, Thrombosis and Vascular Biology
Issue number12
Publication statusPublished - 2013
Publication categoryResearch