title: Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
abstract: BACKGROUND
  Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination.
  
  
  OBJECTIVE
  We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation.
  
  
  METHODS
  All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient.
  
  
  CONCLUSIONS
  Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement.
authors.affiliation: Division of Neurology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
authors.forename: Maina
authors.initials: M
authors.lastname: Kava
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Peter N
authors.initials: PN
authors.lastname: Ray
authors.forename: Jiri
authors.initials: J
authors.lastname: Vajsar
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002971:Cleft Lip / Q000235:genetics* / Q000503:physiopathology*; D002972:Cleft Palate / Q000235:genetics* / Q000503:physiopathology*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000503:physiopathology*; D015785:Eye Diseases, Hereditary / Q000209:etiology / Q000235:genetics; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases
keywords: Fukutin-related protein gene (FKRP); brain; congenital muscular dystrophy; eye; magnetic resonance imaging (MRI)