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Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1

✍ Scribed by Claes, Stephan; Volcke, Philippe; Devriendt, Koenraad; Holvoet, Maureen; Raeymaekers, Peter; Cassiman, Jean-Jacques; Fryns, Jean-Pierre

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 71 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990730)85:3<283::aid-ajmg19>3.0.co;2-n

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✦ Synopsis

Two families with nonspecific X-linked mental retardation (MRX) are presented. In the first family, MRX51, three male patients showed mild to borderline mental retardation. Multipoint linkage analysis yielded a maximal LOD score of 2.10 between markers DXS8012 and DXS1003, localizing the MRX51 gene at Xp11.3-p11.23. In the second family, XLMR7, three men showed moderate mental retardation (MR), and one possible female carrier had mild MR. Multipoint linkage analysis yielded an LOD score of 1 . 8 0 b e t w e e n m a r k e r s D X S 8 0 6 3 a n d DXS1047, situating the disease gene at Xq23-q26.1. When the analysis was performed considering the affected female to be an expressing heterozygote carrier of the disease mutation, a maximal LOD score of 2.10 was found in the same region.

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