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

I. Meloni, M. Bruttini, I. Longo, F. Mari, F. Rizzolio, P. D'Adamo, K. Denvriendt, J. P. Fryns, D. Toniolo, A. Renieri

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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.

Original languageEnglish
Pages (from-to)982-985
Number of pages4
JournalAmerican Journal of Human Genetics
Volume67
Issue number4
DOIs
Publication statusPublished - 2000

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ASJC Scopus subject areas

  • Genetics

Cite this

Meloni, I., Bruttini, M., Longo, I., Mari, F., Rizzolio, F., D'Adamo, P., Denvriendt, K., Fryns, J. P., Toniolo, D., & Renieri, A. (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. https://doi.org/10.1086/303078