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.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family / G. Baranello, S. Saredi, S. Sansanelli, P. Savadori, E. Canioni, L. Chiapparini, P. Balestri, A. Malandrini, M.T. Arnoldi, C. Pantaleoni, L. Morandi, M. Mora. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 25:1(2015 Jan), pp. 55-59.

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

S. Saredi
Secondo
;
P. Savadori;
2015-01

Abstract

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.
Alpha-dystroglycan; Congenital muscular dystrophy; Dystroglycanopathies; ISPD; Limb-girdle muscular dystrophy; Child; Consanguinity; Dystroglycans; Family; Female; Homozygote; Humans; Infant; Laminin; Male; Muscle, Skeletal; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Nucleotidyltransferases; Pedigree; Phenotype; Mutation, Missense; Neurology (clinical); Pediatrics, Perinatology and Child Health; Genetics (clinical); Neurology
Settore BIO/09 - Fisiologia
Article (author)
File in questo prodotto:
File Dimensione Formato  
1-s2.0-S0960896614006361-main.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 2.21 MB
Formato Adobe PDF
2.21 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/477365
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 4
social impact