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
ISSN     0002-9297
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