Journal
MOLECULAR GENETICS AND METABOLISM
Volume 101, Issue 2-3, Pages 233-237Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2010.06.016
Keywords
Muscular dystrophy lipodystrophy; PTRF-CAVIN; CGL4
Funding
- Japan Society for the Promotion of Science
- Ministry of Health, Labour, and Welfare
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Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities during the infantile period. Here, we describe the youngest Japanese case of CGL4 a Japanese girl with asymptomatic high serum creatine kinase (CK) levels at 3 months old. She was referred to our hospital at 5 months of age because of her elevated serum CK (2528 IU/L). Generalized absence of adipose tissue was first recognized at 2 years of age. Mutation analysis of genes known to be responsible for CGL1-3 failed to disclose any abnormalities. Instead, analysis of the PTRF-CAVIN gene encoding PTRF-CAVIN revealed compound heterozygous mutations, one allele contained an insertion (c.696_697insC) and the other allele harbored a novel nonsense mutation (c.512C>A). Our patient had low serum leptin and adiponectin levels and insulin resistance. Pathological studies on biopsied muscle disclosed mild dystrophic change and highly reduced expression of PTRF-CAVIN. It was concluded that our PTRF-CAVIN deficient patient showed not only CGL but also asymptomatic elevation of serum CK because of her mild muscle dystrophic change. (C) 2010 Elsevier Inc. All rights reserved.
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