A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

被引:47
作者
Dwianingsih, Ery Kus [1 ]
Takeshima, Yasuhiro [1 ]
Itoh, Kyoko [2 ]
Yamauchi, Yumiko [1 ]
Awano, Hiroyuki [1 ]
Malueka, Rusdy Ghazali [1 ]
Nishida, Atsushi [1 ]
Ota, Mitsunori [1 ]
Yagi, Mariko [1 ]
Matsuo, Masafumi [1 ]
机构
[1] Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo 6500017, Japan
[2] Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Pathol & Appl Neurobiol, Kyoto, Japan
基金
日本学术振兴会;
关键词
Muscular dystrophy lipodystrophy; PTRF-CAVIN; CGL4; MUSCULAR-DYSTROPHY; ADIPONECTIN LEVELS; DEFICIENCY; CAVEOLAE; GENE; WEIGHT;
D O I
10.1016/j.ymgme.2010.06.016
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:233 / 237
页数:5
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