title: Intragenic deletion as a novel type of mutation in Wolman disease.
abstract: Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular cholesteryl esters and triglycerides. We describe a case of lysosomal acid lipase deficiency in an infant with WD and report on a novel mutation type, intragenic deletion.
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA.
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Lee
authors.forename: Mariko
authors.initials: M
authors.lastname: Welsh
authors.forename: Sonia
authors.initials: S
authors.lastname: Benhamed
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D017384:Sequence Deletion; D002787:Sterol Esterase / Q000235:genetics*; D015223:Wolman Disease / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C503451:LIPA protein, human; D002787:Sterol Esterase