title: Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
abstract: 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.affiliation: Unidad de Genética, Hospital La Fe, Valencia, Spain. martinez_fracas@gva.es
authors.forename: F
authors.initials: F
authors.lastname: Martínez
authors.forename: I
authors.initials: I
authors.lastname: Martínez-Garay
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
authors.forename: A
authors.initials: A
authors.lastname: Pérez-Aytes
authors.forename: M D
authors.initials: MD
authors.lastname: Moltó
authors.forename: C
authors.initials: C
authors.lastname: Orellana
authors.forename: F
authors.initials: F
authors.lastname: Prieto
mesh_terms: D002874:Chromosome Mapping; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D014960:X Chromosome / Q000235:genetics*