Article
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.
European journal of human genetics : EJHG - 1 Mar 2000
Lo Nigro C, Faravelli F, Cavani S, Perroni L, Novello P, Vitali M, Bricarelli F D, Grasso M
Abstract excerpt
The FRAXE fragile site, 600 kb distal to the more common FRAXA, has been reported to be expressed in subjects with mild non-syndromal mental retardation (MR). Amplification of more than 200 GCC repeats, associated with methylation of the adjacent CpG island at Xq28, leads to the expression of the fragile site. In 1996 a large gene, FMR2, transcribed distally from the CpG island and downregulated by repeat...
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