A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family

Giovanni Baranello, Simona Saredi, Serena Sansanelli, Paolo Savadori, Eleonora Canioni, Luisa Chiapparini, Paolo Balestri, Alessandro Malandrini, Maria Teresa Arnoldi, Chiara Pantaleoni, Lucia Morandi, Marina Mora

Research output: Contribution to journalArticlepeer-review


Within the group of muscular dystrophies, dystroglycanopathies represent an important subgroup of recessively inherited disorders. Their severity varies from the relatively mild forms of adult-onset limb-girdle muscular dystrophy (LGMD), to the severe congenital muscular dystrophies (CMD) with cerebral and ocular involvement. We describe 2 consanguineous children of Pakistani origin, carrying a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene. Mutations in this gene have been recently reported as a common cause of congenital and limb-girdle muscular dystrophy. Patient 1 is an 8-year-old female with an intermediate phenotype between CMD and early LGMD; patient 2 is a 20-month-old male and second cousin of patient 1, showing a CMD phenotype. Cognitive development, brain MRI, eye examination, electrocardiogram and echocardiogram were normal in both patients. To our knowledge, this is the first report on the co-occurrence of both a CMD/early LGMD intermediate phenotype and a CMD within the same family carrying a homozygous ISPD mutation.

Original languageEnglish
Pages (from-to)55-59
Number of pages5
JournalNeuromuscular Disorders
Issue number1
Publication statusPublished - Jan 1 2015


  • Alpha-dystroglycan
  • Congenital muscular dystrophy
  • Dystroglycanopathies
  • ISPD
  • Limb-girdle muscular dystrophy

ASJC Scopus subject areas

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


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