Intragenic deletion as a novel type of mutation in Wolman disease

Mol Genet Metab. 2011 Dec;104(4):703-5. doi: 10.1016/j.ymgme.2011.09.006. Epub 2011 Sep 14.

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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Case-Control Studies
  • DNA Mutational Analysis
  • Fatal Outcome
  • Frameshift Mutation
  • Genetic Association Studies
  • Humans
  • Infant
  • Male
  • Sequence Deletion*
  • Sterol Esterase / genetics*
  • Wolman Disease / diagnosis*
  • Wolman Disease / genetics*

Substances

  • LIPA protein, human
  • Sterol Esterase