Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

Muscle Nerve. 2007 Dec;36(6):856-9. doi: 10.1002/mus.20869.

Abstract

Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy
  • DNA Mutational Analysis
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Ichthyosis / enzymology
  • Ichthyosis / genetics
  • Leukocytes / enzymology
  • Leukocytes / pathology
  • Leukocytes / ultrastructure
  • Lipase / genetics*
  • Lipid Metabolism Disorders / enzymology
  • Lipid Metabolism Disorders / genetics*
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation / genetics*
  • Protein Structure, Tertiary / genetics
  • Syndrome

Substances

  • Genetic Markers
  • Lipase
  • PNPLA2 protein, human