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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X-Linked Mental Retardation
Rett Syndrome
Mutation
X-Linked Genes
Genes
Intellectual Disability
Nervous System Diseases
Intelligence

ASJC Scopus subject areas

  • Genetics

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A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. / Meloni, I.; Bruttini, M.; Longo, I.; Mari, F.; Rizzolio, F.; D'Adamo, P.; Denvriendt, K.; Fryns, J. P.; Toniolo, D.; Renieri, A.

In: American Journal of Human Genetics, Vol. 67, No. 4, 2000, p. 982-985.

Research output: Contribution to journalArticle

Meloni, I, Bruttini, M, Longo, I, Mari, F, Rizzolio, F, D'Adamo, P, Denvriendt, K, Fryns, JP, 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, vol. 67, no. 4, pp. 982-985. https://doi.org/10.1086/303078
Meloni, I. ; Bruttini, M. ; Longo, I. ; Mari, F. ; Rizzolio, F. ; D'Adamo, P. ; Denvriendt, K. ; Fryns, J. P. ; Toniolo, D. ; Renieri, A. / A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. In: American Journal of Human Genetics. 2000 ; Vol. 67, No. 4. pp. 982-985.
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AU - Meloni, I.

AU - Bruttini, M.

AU - Longo, I.

AU - Mari, F.

AU - Rizzolio, F.

AU - D'Adamo, P.

AU - Denvriendt, K.

AU - Fryns, J. P.

AU - Toniolo, D.

AU - Renieri, A.

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