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Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)

✍ Scribed by Schutz, Christopher K.; Ives, Elizabeth J.; Chalifoux, Maryse; MacLaren, Linda; Farrell, Sandra; Robinson, Paula D.; White, Bradley N.; Holden, Jeanette J. A.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
694 KB
Volume
64
Category
Article
ISSN
0148-7299

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✦ Synopsis

A gene responsible for X-linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was localized to Xp21.1-p22.13 by linkage analysis. Recombination events placed the gene between DXS1226 distally and DXS1238 proximally, defining an interval of approximately 14 cM. A peak lod score of 2.71 was found with several loci in Xp21.1 (DXS992, DXS1236, DXS997, and DXS1036) at a recombination fraction of zero. The map intervals of 5 Xlinked mental retardation loci, MRX2 (Xp2 1.1-p22.3), MRX29 (Xp2 1 .Z-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syn- drome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. As none of these display the same phenotype seen in the family reported here, this X-linked mental retardation locus may represent a new entity.

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