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

Nathan O. Stitziel | Zendy; Sigrid W. Fouchier | Zendy; Barbara Sjouke | Zendy; Gina M. Peloso | Zendy; Alessa M. Moscoso | Zendy; Paul L. Auer | Zendy; Anuj Goel | Zendy; Bruna Gigante | Zendy; Timothy Barnes | Zendy; Olle Melander | Zendy; Marju OrhoMelander | Zendy; Stefano Duga | Zendy; Suthesh Sivapalaratnam | Zendy; Majid Nikpay | Zendy; Nicola Martinelli | Zendy; Domenico Girelli | Zendy; Rebecca D. Jackson | Zendy; Charles Kooperberg | Zendy; Leslie A. Lange | Zendy; Diego Ardissino | Zendy; Ruth McPherson | Zendy; Martin Farrall | Zendy; Hugh Watkins | Zendy; Muredach P. Reilly | Zendy; Daniel J. Rader | Zendy; Ulf dé Fairé | Zendy; Heribert Schunkert | Zendy; Jeanette Erdmann | Zendy; Mark M. Iles | Zendy; Lawrence Charnas | Zendy; David Altshuler | Zendy; Stacey Gabriel | Zendy; John J.P. Kastelein | Zendy; Joep C. Defesche | Zendy; Aart J. Nederveen | Zendy; Sekar Kathiresan | Zendy; G. Kees Hovingh | Zendy

Open Access

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

Author(s) -

Nathan O. Stitziel,

Sigrid W. Fouchier,

Barbara Sjouke,

Gina M. Peloso,

Alessa M. Moscoso,

Paul L. Auer,

Anuj Goel,

Bruna Gigante,

Timothy Barnes,

Olle Melander,

Marju OrhoMelander,

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 dé Fairé,

Heribert Schunkert,

Jeanette Erdmann,

Mark M. Iles,

Lawrence Charnas,

David Altshuler,

Stacey Gabriel,

John J.P. Kastelein,

Joep C. Defesche,

Aart J. Nederveen,

Sekar Kathiresan,

G. Kees Hovingh

Publication year - 2013

Publication title -

arteriosclerosis thrombosis and vascular biology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.007

H-Index - 270

eISSN - 1524-4636

pISSN - 1079-5642

DOI - 10.1161/atvbaha.113.302426

Subject(s) - familial hypercholesterolemia , exome sequencing , genetics , compound heterozygosity , biology , cholesterol , disease , mendelian inheritance , exome , mutation , medicine , gene , endocrinology

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.

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