Novel mutation in a patient with cholesterol ester storage disease.
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.
Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA ; Thomas Jefferson University, Philadelphia, PA 19107, USA.
Patrick
P
Lin
Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA ; Thomas Jefferson University, Philadelphia, PA 19107, USA ; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Sheela
S
Raikar
Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA ; Thomas Jefferson University, Philadelphia, PA 19107, USA ; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Jennifer
J
Jimenez
Department of Clinical and Anatomic Pathology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Katrina
0000-0002-5537-8698
K
Conard
Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA ; Thomas Jefferson University, Philadelphia, PA 19107, USA ; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Katryn N
KN
Furuya