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

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

来源：Neuromuscular Disorders, 2015, 25(1): 55-59.

DOI：10.1016/j.nmd.2014.08.007

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

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.

• 出版日期2015-1