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Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation

Hammer, Sara ; Dorrani, Naghmeh ; Hartiala, Jaana ; Stein, Stuart ; Schanen, N. Carolyn

American journal of medical genetics, 2003-10, Vol.122A (3), p.223-226 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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Título:
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation
Autor: Hammer, Sara ; Dorrani, Naghmeh ; Hartiala, Jaana ; Stein, Stuart ; Schanen, N. Carolyn
Assuntos: Biological and medical sciences ; Child, Preschool ; Chromosomal Proteins, Non-Histone ; Chromosomes, Human, X - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA-Binding Proteins - genetics ; Female ; Humans ; Karyotyping ; MECP2 ; Medical sciences ; Methyl-CpG-Binding Protein 2 ; Mutation ; Neurology ; Repressor Proteins ; Rett syndrome ; Rett Syndrome - genetics ; Rett Syndrome - pathology ; Sex Chromosome Aberrations ; Trisomy ; X-chromosome
É parte de: American journal of medical genetics, 2003-10, Vol.122A (3), p.223-226
Notas: National Institutes of Health - No. RO1-HD37874 (to NCS)
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Descrição: Rett syndrome is caused by mutation in MECP2, a gene located on Xq28 and subject to X‐inactivation. MECP2 encodes methyl CpG‐binding protein 2, a widely expressed transcriptional repressor of methylated DNA. Mutations in MECP2 are primarily de novo events in the male germ line and thus lead to an excess of affected females. Here we report the identification of a unique 47,XXX girl with relatively mild atypical Rett syndrome leading initially to a diagnosis of infantile autism with regression. Mutation analysis of the MECP2 gene identified a de novo MECP2 mutation, L100V. Examination of a panel of X‐linked microsatellite markers indicated that her supernumerary X chromosome is maternally derived. X‐inactivation patterns were determined by analysis of methylation of the androgen receptor locus, and indicated preferential inactivation of her paternal allele. The parental origin of her MECP2 mutation could not be determined because she was uninformative for intronic polymorphisms flanking her mutation. This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype. © 2003 Wiley‐Liss, Inc.
Editor: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Idioma: Inglês

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