Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene.
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.
Unitat de Patologia Neuromuscular, Hospital Sant Joan de Déu, Barcelona, Spain.
J
J
Colomer
P
P
Gallano
L V
LV
Nicholson
E
E
Tizzano
M
M
Baiget
D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D016189:Dystrophin; D004247:DNA