Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

Journal article

Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.

Authors: Martínez, F; Martínez-Garay, I; Millán, J; Pérez-Aytes, A; Moltó, MD

• Journal: American journal of medical genetics
• Volume: 102
• Issue: 2
• Pages: 200-204
• Publication date: 2001-08-01
• DOI: 10.1002/ajmg.1416
• EISSN: 1096-8628
• ISSN: 0148-7299
• Language: English
• Keywords: Female; Chromosome Mapping; X Chromosome; Lod Score; Microsatellite Repeats; Family Health; Pedigree; Genetic Linkage; Mental Retardation; Humans; Male