title: A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.
abstract: BACKGROUND
  Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy.
  
  
  METHODS
  The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0.1 percentile), attention-deficit hyperactivity disorder, and mild muscle weakness. He had elevated serum creatine kinase and dystrophic changes on muscle biopsy. Dystrophin immunohistochemistry revealed decreased staining with the C-terminal and mid-rod antibodies and essentially absent staining of the N-terminal immunostain. Sequencing of muscle mRNA revealed aberrant splicing due to a c.10797+5G > A mutation in DMD.
  
  
  CONCLUSIONS
  Dystrophinopathy may be associated with predominantly cognitive impairment and neurobehavioral disorder, and should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males.
authors.affiliation: *Division of Developmental Paediatrics, Department of Paediatrics, University of Toronto, Toronto, ON, Canada; †Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada; ‡Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; §Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ‖Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ¶Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada; **Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: Rudaina
authors.initials: R
authors.lastname: Banihani
authors.forename: Berivan
authors.initials: B
authors.lastname: Baskin
authors.forename: William
authors.initials: W
authors.lastname: Halliday
authors.forename: Jeff
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Anne
authors.initials: A
authors.lastname: Kawamura
authors.forename: Laura
authors.initials: L
authors.lastname: McAdam
authors.forename: Peter N
authors.initials: PN
authors.lastname: Ray
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
mesh_terms: D000293:Adolescent; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation
chemical_list: C484258:DMD protein, human; D016189:Dystrophin