Localization of non‐specific X‐linked mental retardation gene (MRX73) to Xp22.2 |
| |
| Authors: | Isabel Martínez‐Garay José María Millán Antonio Pérez‐Aytes María Dolores Moltó Carmen Orellana Félix Prieto |
| |
| Affiliation: | 1. Departamento de Genética, Facultad de Ciencias Biológicas, Universidad de Valencia, Valencia, Spain;2. Unidad de Genética, Hospital La Fe, Valencia, Spain;3. Departamento de Pediatría, Hospital La Fe, Valencia, Spain |
| |
| 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. © 2001 Wiley‐Liss, Inc. |
| |
| Keywords: | X‐linked mental retardation MRX linkage analysis microsatellite Xp22.2 RSK2 Coffin‐Lowry syndrome dystrophin |
|
|
