A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
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 3months old. She was referred to our hospital at 5months of age because of her elevated serum CK (2528IU/L). Generalized absence of adipose tissue was first recognized at 2years 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.
Dwianingsih
Ery Kus
EK
Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
Takeshima
Yasuhiro
Y
Itoh
Kyoko
K
Yamauchi
Yumiko
Y
Awano
Hiroyuki
H
Malueka
Rusdy Ghazali
RG
Nishida
Atsushi
A
Ota
Mitsunori
M
Yagi
Mariko
M
Matsuo
Masafumi
M
D052242:Adiponectin / Q000097:blood; D044466:Asian People / Q000235:genetics; D051242:Caveolin 1 / Q000235:genetics*; D002675:Child, Preschool; D003402:Creatine Kinase; D005260:Female; D006801:Humans; D007223:Infant; D007333:Insulin Resistance; D020738:Leptin / Q000097:blood; D052497:Lipodystrophy, Congenital Generalized / Q000235:genetics* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D016601:RNA-Binding Proteins / Q000235:genetics*
D052242:Adiponectin; C495540:CAV1 protein, human; C497835:CAVIN1 protein, human; D051242:Caveolin 1; D020738:Leptin; D016601:RNA-Binding Proteins; D003402:Creatine Kinase