Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients.
Santos
Mónica
M
Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.
Temudo
Teresa
T
Kay
Teresa
T
Carrilho
Inês
I
Medeira
Ana
A
Cabral
Helena
H
Gomes
Roseli
R
Lourenço
Maria Teresa
MT
Venâncio
Margarida
M
Calado
Eulália
E
Moreira
Ana
A
Oliveira
Guiomar
G
Maciel
Patrícia
P
D000293:Adolescent; D001921:Brain / Q000254:growth & development / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*; D055815:Young Adult
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2