Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. Issue 10 (October 1998)

• Record Type: Journal Article
• Authors: Yntema, H G; Hamel, B C; Smits, A P; van Roosmalen, T; van den Helm, B; Kremer, H; Ropers, H H; Smeets, D F; van Bokhoven, H
• Is Part Of: Journal of medical genetics. Volume 35:Issue 10(1998)
• Page Start: 801
• Page End: 805
• Publication Date: 1998-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.35.10.801
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report linkage data on a new large family with non-specific X linked mental retardation (MRX), using 24 polymorphic markers covering the entire X chromosome. We could assign the underlying disease gene, denoted MRX46, to the Xq25-q26 region. MRX46 is tightly linked to the markers DXS8072, HPRT, and DXS294 with a maximum lod score of 5.12 at theta=0. Recombination events were observed with DXS425 in Xq25 and DXS984 at the Xq26-Xq27 boundary, which localises MRX46 to a 20.9 cM (12 Mb) interval. Several X linked mental retardation syndromes have been mapped to the same region of the X chromosome. In addition, the localisation of two MRX genes, MRX27 and MRX35, partially overlaps with the linkage interval obtained for MRX46. Although an extension of the linkage analysis for MRX35 showed only a minimal overlap with MRX46, it cannot be excluded that the same gene is involved in several of these MRX disorders. On the other hand, given the considerable genetic heterogeneity in MRX, one should be extremely cautious in using interfamilial linkage data to narrow down the localisation of MRX genes. Therefore, unless the underlying gene(s) is characterised by the analysis of candidate genes, MRX46 can be considered a new independent MRX locus.