Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

Chiara Fiorillo, Francesca Moro, Guja Astrea, Maria Aurora Morales, Jacopo Baldacci, Maria Marchese, Sara Scapolan, Claudio Bruno, Roberta Battini, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the fukutin gene were first identified in Japanese patients with classic Fukuyama congenital muscular dystrophy, a severe form of congenital muscular dystrophy associated with cobblestone lissencephaly and ocular defects. Patients of different ethnicities and with milder phenotypes, including limb girdle muscular dystrophy and cardiomyopathy without brain impairment, have also been reported. The hallmark of this disorder, regardless of the clinical outcome, is moderate-to-severe hypoglycosylation of alpha-dystroglycan in muscle sections. We describe the case of a boy harboring two novel mutations in fukutin gene and presenting a five-year history of asymptomatic hyperCKemia, without overt muscle, brain or ocular involvement. Genetic investigations, guided by the presence of moderate myopathic changes on muscle biopsy with loss of immunodetectable alpha-dystroglycan, led to a definitive diagnosis. Cardiac and echocardiographic examinations at follow-up disclosed low normal left ventricular function but no active cardiovascular symptoms. We suggest that fukutin mutations should be sought in asymptomatic hyperCKemia and subclinical heart dysfunction.

Original languageEnglish
Pages (from-to)1010-1015
Number of pages6
JournalNeuromuscular Disorders
Volume23
Issue number12
DOIs
Publication statusPublished - Dec 2013

Keywords

  • Alpha-dystroglycan
  • Cardiomyopathy
  • Fukutin gene
  • HyperCKemia
  • Mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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