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Title: A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
Authors: Meloni, I ×
Bruttini, M
Longo, I
Mari, F
Rizzolio, F
D'Adamo, P
Devriendt, Koenraad
Fryns, Jean-Pierre
Toniolo, D
Renieri, A #
Issue Date: Oct-2000
Series Title: American Journal of Human Genetics vol:67 issue:4 pages:982-5
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.
URI: 
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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