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.

Meloni, I., Bruttini, M., Longo, I., Mari, F., Rizzolio, F., D'Adamo, P., et al. (2000). A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 982-985 [10.1086/303078].

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

MELONI, ILARIA;BRUTTINI, MIRELLA;MARI, FRANCESCA;RENIERI, ALESSANDRA
2000

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/19467