A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
Am J Hum Genet
; 67(4): 982-5, 2000 Oct.
Article
em En
| MEDLINE
| ID: mdl-10986043
ABSTRACT
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females. Only one male presenting an MECP2 mutation has been reported; he survived only to age 1 year, suggesting that mutations in MECP2 are male lethal. Here we report a three-generation family in which two affected males showed severe mental retardation and progressive spasticity, previously mapped in Xq27.2-qter. Two obligate carrier females showed either normal or borderline intelligence, simulating an X-linked recessive trait. The two males and the two obligate carrier females presented a mutation in the MECP2 gene, demonstrating that, in males, MECP2 can be responsible for severe mental retardation associated with neurological disorders.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
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Cromossomo X
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Proteínas Cromossômicas não Histona
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Síndrome de Rett
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Proteínas de Ligação a DNA
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Ligação Genética
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Deficiência Intelectual
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Espasticidade Muscular
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Mutação
Tipo de estudo:
Etiology_studies
Limite:
Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article