A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.
Ventura
P
P
Department of Neurorehabilitation 2 Psychopathological Disturbances in Childhood and Adolescence, Scientific Institute Eugenio Medea for Research, Hospitalization and Healthcare, Regional Branch of Ostuni (BR), Italy.
Galluzzi
R
R
Bacca
S M
SM
Giorda
R
R
Massagli
A
A
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002648:Child; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis / Q000379:methods; D004569:Electroencephalography / Q000379:methods; D004576:Electromyography; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D009483:Neuropsychological Tests
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2