Literature DB >> 8826460

Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31).

A J Donnelly1, M W Partington, A K Ryan, J C Mulley.   

Abstract

Two genes responsible for X-linked mental retardation have been localised by linkage analysis. MRX30 maps to a 28 cM region flanked by the loci DXS990 (Xq21.3) and DXS424 (Xq24). A significant multipoint lod score of 2.78 was detected between the loci DXS1120 and DXS456. MRX31 maps to a 12 cM region that spans the centromere from DXS1126 (Xp11.23) to DXS1124 (Xq13.3). Significant two-point lod scores, at a recombination fraction of zero, were obtained with the loci DXS991 (Zmax = 2.06), AR (Zmax = 3.44), PGK1P1 (Zmax = 2.06) and DXS453 (Zmax = 3.31). The MRX30 localisation overlaps that of MRX8, 13, 20 and 26 and defines the position of a new MRX gene on the basis of a set of non-overlapping regional localisations. The MRX31 localisation overlaps the localisations of many of the pericentromeric MRX loci (MRX 1, 4, 5, 7, 8, 9, 12, 13, 14, 15, 17, 20, 22 and 26). There are now at least 8 distinct loci associated with non-specific mental retardation on the X chromosome defined, in order from pter to qter, by localisation for MRX24, MRX2, MRX10, MRX1, MRX30, MRX27, FRAXE and MRX3.

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Year:  1996        PMID: 8826460     DOI: 10.1002/(SICI)1096-8628(19960712)64:1<113::AID-AJMG19>3.0.CO;2-Q

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


  5 in total

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2.  Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Authors:  Ching Moey; Susan J Hinze; Louise Brueton; Jenny Morton; Dominic J McMullan; Benjamin Kamien; Christopher P Barnett; Nicola Brunetti-Pierri; Jillian Nicholl; Jozef Gecz; Cheryl Shoubridge
Journal:  Eur J Hum Genet       Date:  2015-06-10       Impact factor: 4.246

3.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Authors:  Guy Froyen; Mark Corbett; Joke Vandewalle; Irma Jarvela; Owen Lawrence; Cliff Meldrum; Marijke Bauters; Karen Govaerts; Lucianne Vandeleur; Hilde Van Esch; Jamel Chelly; Damien Sanlaville; Hans van Bokhoven; Hans-Hilger Ropers; Frederic Laumonnier; Enzo Ranieri; Charles E Schwartz; Fatima Abidi; Patrick S Tarpey; P Andrew Futreal; Annabel Whibley; F Lucy Raymond; Michael R Stratton; Jean-Pierre Fryns; Rodney Scott; Maarit Peippo; Marjatta Sipponen; Michael Partington; David Mowat; Michael Field; Anna Hackett; Peter Marynen; Gillian Turner; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

Review 4.  Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.

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Journal:  Int J Mol Sci       Date:  2018-06-20       Impact factor: 5.923

5.  Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.

Authors:  Giulia Pascolini; Federica Gaudioso; Chiara Passarelli; Antonio Novelli; Niccolò Di Giosaffatte; Silvia Majore; Paola Grammatico
Journal:  J Mol Neurosci       Date:  2021-07-05       Impact factor: 3.444

  5 in total

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