Novel mutation in a patient with cholesterol ester storage disease.
Publication/Presentation Date
1-1-2015
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.
Volume
2015
First Page
347342
Last Page
347342
ISSN
2090-6544
Published In/Presented At
Lin, P., Raikar, S., Jimenez, J., Conard, K., & Furuya, K. N. (2015). Novel mutation in a patient with cholesterol ester storage disease. Case reports in genetics, 2015, 347342. https://doi.org/10.1155/2015/347342
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
25722898
Department(s)
Department of Pediatrics
Document Type
Article