Literature DB >> 8230164

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

L Kozák1, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, G Neri.   

Abstract

Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had mild mental retardation and another two had normal intelligence. The results indicate tight linkage to DNA markers DXS84 (L754), DXS164 (pERT87-15), and DXS278 (CRI-S232). A maximum lod score of 2.11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised.

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Year:  1993        PMID： 8230164      PMCID： PMC1016571          DOI： 10.1136/jmg.30.10.866

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors:  G N Wilson; C S Richards; K Katz; G S Brookshire
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Gene for non-specific X-linked mental retardation maps in the pericentromeric region.

Authors:  C Samanns; R Albrecht; M Neugebauer; G Neri; A Gal
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

3.  MRX8: an X-linked mental retardation condition with linkage to Xq21.

Authors:  C E Schwartz; M May; T Huang; D Ledbetter; G Anderson; D F Barker; H A Lubs; F Arena; R E Stevenson
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

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

Authors:  B Kerr; A Gedeon; J Mulley; G Turner
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

5.  Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1991

6.  Localisation of the MRX3 gene for non-specific X linked mental retardation.

Authors:  A Gedeon; B Kerr; J Mulley; G Turner
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

7.  A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

Authors:  G K Suthers; G Turner; J C Mulley
Journal:  Am J Med Genet       Date:  1988 May-Jun

8.  Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

Authors:  B Arveiler; Y Alembik; A Hanauer; P Jacobs; L Tranebjaerg; M Mikkelsen; H Puissant; L L Piet; J L Mandel
Journal:  Am J Med Genet       Date:  1988 May-Jun

Review 9.  XLMR genes: update 1992.

Authors:  G Neri; P Chiurazzi; F Arena; H A Lubs; I A Glass
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

10.  Dystrophin is transcribed in brain from a distant upstream promoter.

Authors:  F M Boyce; A H Beggs; C Feener; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  1991-02-15       Impact factor: 11.205
  10 in total
  8 in total

1.  Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11.

Authors:  K Muroya; E Kinoshita; T Kamimaki; N Matsuo; T Yorifugi; T Ogata
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

2.  IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.

Authors:  Erin L Youngs; Rebecca Henkhaus; Jessica A Hellings; Merlin G Butler
Journal:  Eur J Med Genet       Date:  2011-09-10       Impact factor: 2.708

3.  MR Imaging Findings in Xp21.2 Duplication Syndrome.

Authors:  Matthew T Whitehead; Guy Helman; Andrea L Gropman
Journal:  J Radiol Case Rep       Date:  2016-05-31

4.  Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Authors:  D Lugtenberg; A P M de Brouwer; T Kleefstra; A R Oudakker; S G M Frints; C T R M Schrander-Stumpel; J P Fryns; L R Jensen; J Chelly; C Moraine; G Turner; J A Veltman; B C J Hamel; B B A de Vries; H van Bokhoven; H G Yntema
Journal:  J Med Genet       Date:  2005-09-16       Impact factor: 6.318

5.  Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Authors:  L Kozák; V Kuhrová; M Blazková; V Romano; L Fajkusová; D Dvoráková; A Pijácková
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

6.  Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Authors:  Mariana Ramos-Brossier; Caterina Montani; Nicolas Lebrun; Laura Gritti; Christelle Martin; Christine Seminatore-Nole; Aurelie Toussaint; Sarah Moreno; Karine Poirier; Olivier Dorseuil; Jamel Chelly; Anna Hackett; Jozef Gecz; Eric Bieth; Anne Faudet; Delphine Heron; R Frank Kooy; Bart Loeys; Yann Humeau; Carlo Sala; Pierre Billuart
Journal:  Hum Mol Genet       Date:  2014-10-09       Impact factor: 6.150

7.  A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

Authors:  M Fukami; S Kirsch; S Schiller; A Richter; V Benes; B Franco; K Muroya; E Rao; S Merker; B Niesler; A Ballabio; W Ansorge; T Ogata; G A Rappold
Journal:  Am J Hum Genet       Date:  2000-07-20       Impact factor: 11.025

8.  The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

Authors:  Sarah M Al-Qattan; Salma M Wakil; Shamsa Anazi; Anas M Alazami; Nisha Patel; Ranad Shaheen; Hanan E Shamseldin; Samya T Hagos; Haya M AlDossari; Mustafa A Salih; Heba Y El Khashab; Amal Y Kentab; Mohammed N AlNasser; Fahad A Bashiri; Namik Kaya; Mais O Hashem; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822
  8 in total

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