Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.
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.
Ronce
N
N
Unité de Génétique, Hôpital Bretonneau, Tours, France.
Raynaud
M
M
Toutain
A
A
Moizard
M P
MP
Colleaux
L
L
Gendrot
C
C
Briault
S
S
Moraine
C
C
D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D003582:Cytogenetics; D016189:Dystrophin / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005991:Glycerol Kinase / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008126:Lod Score; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics; D038744:Ribosomal Protein S6 Kinases, 90-kDa; D012640:Seizures / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
C094406:140-kDa dystrophin; D016189:Dystrophin; D011494:Protein Kinases; D005991:Glycerol Kinase; D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3