1. Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene
- Author
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E. F. Tizzano, Jaume Colomer, M. Baiget, P. Gallano, and L. V. B. Nicholson
- Subjects
Male ,medicine.medical_specialty ,Elevated level ,Mentally retarded ,Polymerase Chain Reaction ,Dystrophin ,Intellectual Disability ,Internal medicine ,Angelman syndrome ,medicine ,Humans ,Sequence Deletion ,Muscle biopsy ,medicine.diagnostic_test ,biology ,business.industry ,Dystrophy ,Karyotype ,DNA ,medicine.disease ,Dystrophin gene ,Endocrinology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,biology.protein ,business - Abstract
We report here a mentally retarded 32-month-old boy whose initial diagnosis was Angelman syndrome based on his clinical features. Cytogenetic studies showed a normal karyotype. Due to an elevated level of serum creatine kinase activity, we performed analyses to rule out a myopathic process. Although the electromyogram was normal, a few scattered necrotic fibres were seen in the muscle biopsy. DNA and dystrophin studies revealed an in-frame deletion in the 5' region of the dystrophin gene and an abnormal form of the protein product, consistent with a diagnosis of dystrophinopathy. We cannot totally rule out the possibility that this boy has the two separate conditions.
- Published
- 1994
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