title: Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
abstract: BACKGROUND
  Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. In CGL4, symptoms are variable comprising, in addition to myopathy, smooth and skeletal muscle hypertrophy, cardiac arrhythmias, and skeletal abnormalities. Secondary features are atlantoaxial instability, acanthosis nigricans, hepatomegaly, umbilical prominence and metabolic abnormalities related to insulin resistance, such as diabetes mellitus, hyperlipidemia and hepatic steatosis.
  
  
  METHODS
  We describe a 3 year-old child of Moroccan origin with mild muscle phenotype, mainly characterized by mounding, muscle pain, hyperCKemia and mild caveolin 3 reduction on muscle biopsy. No CAV3 gene mutation was detected; instead we found a novel mutation, a homozygous single base pair deletion, in the PTRF gene. Only after detection of this mutation a mild generalized loss of subcutaneous fat, at first underestimated, was noticed and the diagnosis of lipodystrophy inferred.
  
  
  CONCLUSIONS
  The PTRF gene should be investigated in patients with hyperCKemia, mild myopathy associated with spontaneous or percussion-induced muscle contractions like rippling or mounding, and no CAV3 mutation. The analysis should be performed even if cardiac or metabolic alterations are absent, particularly in young patients in whom lipodystrophy may be difficult to ascertain.
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C, Besta, Milano, Italy. mmora@istituto-besta.it.
authors.forename: Anna
authors.initials: A
authors.lastname: Ardissone
authors.forename: Cinzia
authors.initials: C
authors.lastname: Bragato
authors.forename: Lorella
authors.initials: L
authors.lastname: Caffi
authors.forename: Flavia
authors.initials: F
authors.lastname: Blasevich
authors.forename: Sabrina
authors.initials: S
authors.lastname: Maestrini
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Bianchi
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
mesh_terms: D051242:Caveolin 1 / Q000378:metabolism; D051244:Caveolin 3 / Q000235:genetics / Q000378:metabolism; D002675:Child, Preschool; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D009119:Muscle Contraction; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics*; D009154:Mutation; D016601:RNA-Binding Proteins / Q000235:genetics*; D050151:Subcutaneous Fat / Q000378:metabolism; D014057:Tomography, X-Ray Computed
chemical_list: C497835:CAVIN1 protein, human; D051242:Caveolin 1; D051244:Caveolin 3; D016601:RNA-Binding Proteins
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