A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability
| Autor: | Anne Kawamura, Rudaina Banihani, Jeff Kobayashi, Grace Yoon, Berivan Baskin, William Halliday, Peter N. Ray, Laura McAdam |
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| Rok vydání: | 2016 |
| Předmět: |
Male
musculoskeletal diseases 0301 basic medicine Pediatrics medicine.medical_specialty Adolescent Duchenne muscular dystrophy macromolecular substances 030105 genetics & heredity Dystrophin 03 medical and health sciences 0302 clinical medicine Intellectual Disability Intellectual disability Developmental and Educational Psychology medicine Humans Muscular dystrophy Psychiatry biology Wechsler Adult Intelligence Scale medicine.disease Muscular Dystrophy Duchenne Psychiatry and Mental health Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) biology.protein Psychology Novel mutation 030217 neurology & neurosurgery |
| Zdroj: | Journal of Developmental & Behavioral Pediatrics. 37:239-244 |
| ISSN: | 0196-206X |
| Popis: | Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy.The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ0.1 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+5GA mutation in DMD.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. |
| Databáze: | OpenAIRE |
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