Literature DB >> 1605217

Localization of non-specific X-linked mental retardation genes.

B Kerr1, A Gedeon, J Mulley, G Turner.   

Abstract

Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX. None of the affected individuals who were tested showed variation suggestive of a deletion. No consistent clinical features were observed between or within 4 of the 5 families. In MRX12, prematurity or low birth weight, hypotelorism and short stature were seen in several affected males. Heterozygote manifestations occurred in 3 families. There was no evidence to suggest involvement of the same gene in more than one family, nor to clinically separate these families into distinct genetic entities. Non-overlapping localizations for MRX1 and MRX10 demonstrate the existence of at least 2 separate loci among these 5 families.

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Year:  1992        PMID: 1605217     DOI: 10.1002/ajmg.1320430160

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


  7 in total

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Authors:  Raman Kumar; Mark A Corbett; Bregje W M van Bon; Joshua A Woenig; Lloyd Weir; Evelyn Douglas; Kathryn L Friend; Alison Gardner; Marie Shaw; Lachlan A Jolly; Chuan Tan; Matthew F Hunter; Anna Hackett; Michael Field; Elizabeth E Palmer; Melanie Leffler; Carolyn Rogers; Jackie Boyle; Melanie Bienek; Corinna Jensen; Griet Van Buggenhout; Hilde Van Esch; Katrin Hoffmann; Martine Raynaud; Huiying Zhao; Robin Reed; Hao Hu; Stefan A Haas; Eric Haan; Vera M Kalscheuer; Jozef Gecz
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

3.  Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Authors:  L Kozák; P Chiurazzi; M Genuardi; M G Pomponi; M Zollino; G Neri
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4.  Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

Authors:  Sinitdhorn Rujirabanjerd; John Nelson; Patrick S Tarpey; Anna Hackett; Sarah Edkins; F Lucy Raymond; Charles E Schwartz; Gillian Turner; Shigeki Iwase; Yang Shi; P Andrew Futreal; Michael R Stratton; Jozef Gecz
Journal:  Eur J Hum Genet       Date:  2009-10-14       Impact factor: 4.246

5.  Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.

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6.  TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Authors:  Christiane Christophe-Hobertus; Frank Kooy; Jozef Gecz; Marc J Abramowicz; Elke Holinski-Feder; Charles Schwartz; Daniel Christophe
Journal:  BMC Med Genet       Date:  2004-09-02       Impact factor: 2.103

7.  WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

Authors:  Sylwia Rzońca-Niewczas; Jolanta Wierzba; Ewa Kaczorowska; Milena Poryszewska; Joanna Kosińska; Piotr Stawiński; Rafał Płoski; Jerzy Bal
Journal:  Genes (Basel)       Date:  2021-11-28       Impact factor: 4.096

  7 in total

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