6533b81ffe1ef96bd12785be
RESEARCH PRODUCT
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
Antonio Perez-aytesFélix PrietoFrancisco MartínezCarmen OrellanaJosé M. MillánMaría Dolores MoltóIsabel Martinez-garaysubject
Family HealthMaleGeneticscongenital hereditary and neonatal diseases and abnormalitiesCoffin–Lowry syndromeX ChromosomeGenetic LinkageHaplotypeChromosome MappingLocus (genetics)Biologymedicine.diseasePedigreeGenetic linkageIntellectual DisabilitymedicineHumansMissense mutationMicrosatelliteFemaleLod ScoreRestriction fragment length polymorphismGenetics (clinical)X chromosomeMicrosatellite Repeatsdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2001-08-01 |