Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant
Author(s):
Latimer, Caitlin S.; Schleit, Jennifer; Reynolds, Adam; Marshall, Desiree A.; Podemski, Benjamin; Wang, Leo H.; Gonzalez-cuyar, Luis F.
Format:
Journal article
Citation:
Neuromuscular Disorders, Volume 28, Issue 7 (2018-07). pp. 606-609.
Language:
English
Abstract:
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy. Genetic testing revealed a homozygous splice site variant in PNPLA2, c.757 + 1G > T. This case, in combination with the one previously reported case of this PNPLA2 variant, also in a family of Hmong descent, suggests this particular variant may be unique to the Hmong population, a Southeast Asian minority group living in the United States, who immigrated to the United States as refugees after the Vietnam War. (C) 2018 Elsevier B.V. All rights reserved.