Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
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.
Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Sapporo 060-8638, Japan. akiyama@med.hokudai.ac.jp
Masashi
M
Akiyama
Kaori
K
Sakai
Masaya
M
Ogawa
James R
JR
McMillan
Daisuke
D
Sawamura
Hiroshi
H
Shimizu
D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008049:Lipase / Q000235:genetics*; D052439:Lipid Metabolism Disorders / Q000201:enzymology / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D013577:Syndrome; D000217:Acyltransferases
D005819:Genetic Markers; D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases