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

Autores de IIS La Fe

• Francisco Martinez Soriano

  Autor

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  José María Millán Salvador

  Autor

• Antonio Pérez Aytes

  Autor

• Carmen Orellana Alonso

  Autor

Participantes ajenos a IIS La Fe

• Martínez-Garay I
• Moltó MD
• Prieto F

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.

Keywords

• X-linked mental retardation; MRX; linkage analysis; microsatellite; Xp22.2; RSK2; Coffin-Lowry syndrome; dystrophin