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Titolo:
Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
Autore:
Amir, RE; Zoghbi, HY;
Indirizzi:
Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 ghes Med Inst, Houston, TX 77030 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 97, anno: 2000,
pagine: 147 - 152
SICI:
0148-7299(200022)97:2<147:RSMP2M>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-LINKED INHERITANCE; TRANSCRIPTIONAL REPRESSOR; HISTONE DEACETYLASE; EXCLUSION MAP; SUDDEN-DEATH; MECP2; CHROMOSOME; COMPLEX; GIRLS; GENE;
Keywords:
Rett syndrome; mental retardation in females; autistic features in females; methyl-CpG-binding protein 2; MECP2; X chromosome inactivation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
59
Recensione:
Indirizzi per estratti:
Indirizzo: Zoghbi, HY Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 st, Houston, TX 77030 USA
Citazione:
R.E. Amir e H.Y. Zoghbi, "Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations", AM J MED G, 97(2), 2000, pp. 147-152

Abstract

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that manifests in females, typically after the first year of life. It is a leading cause of mental retardation and autistic behavior in girls and women;a hallmark of the disease is incessant hand movements in the form of wringing, twisting, or clapping. it was recently discovered that RTT is caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. MECP2 assistsin the transcriptional silencing process via DNA methylation; we hypothesize that disruption of this gene alters the normal developmental expression of Various other genes, some of which must account for the peculiar neurologic phenotype of RTT. Molecular studies have identified MECP2 mutations in up to 80% of classic RTT patients; mutation type has some effect on the phenotypic manifestation of RTT, but the pattern of X inactivation seems to determine phenotypic severity. Favorable (skewed) X inactivation can so spa re a patient from the effects of muta nt MECP2 that they display only the mildest learning disability or no phenotype at all. The unmitigated impact ofmutant MECP2 can be inferred from the few males who have been born into RTT kindreds with such severe neonatal encephalopathy that they did not survive their second year. MECP2 mutations thus manifest in a far broader array of phenotypes than classic RTT. This discovery should prove helpful in diagnosing cases of mild learning disability or severe neonatal encephalopathies of unknown cause and also should provide insight into the pathogenesis ofRTT. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 10:07:39