Author/Editor		Meloni, Ilaria; Bruttini, Mirella; Longo, Ilaria; D'Adamo, P
Title		A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
Type		članek
Source		Am J Hum Genet
Vol. and No.		Letnik 67, št. 4
Publication year		2000
Volume		str. 982-5
Language		eng
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.
Descriptors		CHROMOSOMAL PROTEINS, NON-HISTONE REPRESSOR PROTEINS ADULT CHILD CHILD, PRESCHOOL DNA-BINDING PROTEINS DISEASE PROGRESSION FETAL DEATH GENES, LETHAL GENES, RECESSIVE HETEROZYGOTE INFANT INFANT, NEWBORN MENTAL RETARDATION MUSCLE SPASTICITY MUTATION PEDIGREE RNA, MESSENGER RETT SYNDROME X CHROMOSOME