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Case Reports in Genetics
Volume 2015 (2015), Article ID 347342, 4 pages
http://dx.doi.org/10.1155/2015/347342
Case Report

Novel Mutation in a Patient with Cholesterol Ester Storage Disease

1Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA
2Thomas Jefferson University, Philadelphia, PA 19107, USA
3Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA
4Department of Clinical and Anatomic Pathology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA

Received 21 November 2014; Accepted 27 January 2015

Academic Editor: Yoshiyuki Ban

Copyright © 2015 Patrick Lin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive disease that is due to a deficiency in lysosomal acid lipase (LAL) activity, which is coded by the lysosomal acid lipase gene (LIPA). We describe the case of a 5-year-old south Asian female incidentally found to have hepatomegaly, and subsequent workup confirmed the diagnosis of CESD. DNA sequencing confirmed the presence of a novel hepatic mutation. It is a four-nucleotide deletion c.57_60delTGAG in exon 2 of the LIPA gene. This mutation is predicted to result in a premature translation stop downstream of the deletion (p.E20fs) and, therefore, is felt to be a disease-causing mutation.