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Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family

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Ronce, Nathalie | Raynaud, Martine | Toutain, Annick | Moizard, Marie-Pierre | Colleaux, C | Gendrot, Chantal | Briault, Sylvain | Moraine, Claude | Colleaux, Laurence

Edité par CCSD ; Wiley -

International audience. Linkage analysis was performed in three generations of a French family segregating a syndromal form of X-linked mental retardation. All affected males had neonatal hypotonia, seizures, muscular hypodevelopment, and severe mental deficiency. A peak lod score of 2.90 at a recombination fraction of theta = 0 was detected for DXS 1052 and DXS 451 (Xp22.13). Recombination between the disease locus and the polymorphic markers in DXS7163 and DXS1238 suggested a gene mapping to the Xp22.13-Xp21.2 region. Three candidate genes in this region were investigated: the cDNA for kinase Rsk-2 involved in Coffin-Lowry syndrome, the brain-specific exon of a transcript in the DMD locus (DP140 isoform of dystrophin), and exon 18 of the glycerol kinase gene, which is specific to fetal brain transcripts. All three sequences were normal.

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