A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4
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DOI：
10.1016/j.ymgme.2010.06.016
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发表时间：
2010-10-01
影响因子：
3.8
通讯作者：
Matsuo, Masafumi
中科院分区：
文献类型：
--
作者：
Dwianingsih, Ery Kus;Takeshima, Yasuhiro;Matsuo, Masafumi
先天性全身性脂肪营养不良（CGL）的特点是全身缺乏脂肪组织，有不同的原因。最近，一种新类型的CGL并发肌营养不良症被归类为CGL 4引起的PTRF-CAVIN缺陷。然而，尚不清楚CGL 4是否在婴儿期表现出临床异常。在这里，我们描述了最年轻的日本病例CGL 4一个日本女孩无症状高血清肌酸激酶（CK）水平在3个月大。她在5个月大时因血清CK升高（2528 IU/L）被转诊至我院。在2岁时首次发现全身脂肪组织缺失。对已知负责CGL 1 -3的基因的突变分析未能揭示任何异常。相反，对编码PTRF-CAVIN的PTRF-CAVIN基因的分析揭示了复合杂合突变，一个等位基因含有插入（c.696_697insC），另一个等位基因含有新的无义突变（c.512C>A）。我们的病人有低血清瘦素和脂联素水平和胰岛素抵抗。活检肌肉的病理学研究揭示了轻度营养不良改变和PTRF-CAVIN表达的高度降低。我们的结论是，我们的PTRF-CAVIN缺陷型患者不仅表现出CGL，但也无症状的血清CK升高，因为她的轻度肌肉营养不良的变化。(C)2010年爱思唯尔公司All rights reserved.
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.