Literature DB >> 10398242

Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22.

B Häne1, R E Stevenson, J F Arena, H A Lubs, R J Simensen, C E Schwartz.   

Abstract

We studied a family with 11 males having X-linked mental retardation (XLMR) using microsatellite markers. Aside from the mental retardation, the affected males do not appear to differ from their unaffected brothers or uncles. The gene for this XLMR condition has been linked to DXS451 in Xp22.13 with a lod score of 5.18 at straight theta = 0. Recombination was detected at DXS992 (Xp21.3) and DXS1053 (Xp22.2), thereby defining the limits of the localization. This family is considered to have nonsyndromic XLMR and has been assigned the designation MRX32. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10398242     DOI: 10.1002/(sici)1096-8628(19990730)85:3<271::aid-ajmg17>3.3.co;2-r

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Authors:  Monica L Stepp; A Lauren Cason; Merran Finnis; Marie Mangelsdorf; Elke Holinski-Feder; David Macgregor; Andrée MacMillan; Jeanette J A Holden; Jozef Gecz; Roger E Stevenson; Charles E Schwartz
Journal:  BMC Med Genet       Date:  2005-04-25       Impact factor: 2.103

  1 in total

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