Literature DB >> 3177466

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

G K Suthers1, G Turner, J C Mulley.   

Abstract

An analysis of the linkage of a non-syndromal form of X-linked mental retardation (MRX1) with a number of markers on the X chromosome was performed in a large pedigree. The affected males had moderate mental retardation; in all other clinical respects and cytogenetically they were normal. No recombinants were observed between the MRX1 gene and the marker DXS14 (p58.1) located at Xp11-cen (Z (max.) = 2.12 at theta = 0.00). Recombination was observed between the MRX1 gene and the markers DXS7 and DXYS1 which flank DXS14. This form of XLMR maps to the centromeric portion of the X-chromosome.

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Year:  1988        PMID： 3177466     DOI： 10.1002/ajmg.1320300151

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


  17 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

Review 2.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

Review 3.  Non-specific X linked mental retardation.

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

4.  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

5.  Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Authors:  Cheryl Shoubridge; Patrick S Tarpey; Fatima Abidi; Sarah L Ramsden; Sinitdhorn Rujirabanjerd; Jessica A Murphy; Jackie Boyle; Marie Shaw; Alison Gardner; Anne Proos; Helen Puusepp; F Lucy Raymond; Charles E Schwartz; Roger E Stevenson; Gill Turner; Michael Field; Randall S Walikonis; Robert J Harvey; Anna Hackett; P Andrew Futreal; Michael R Stratton; Jozef Gécz
Journal:  Nat Genet       Date:  2010-05-16       Impact factor: 38.330

6.  Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

Authors:  Cheryl Shoubridge; Randall S Walikonis; Jozef Gécz; Robert J Harvey
Journal:  Small GTPases       Date:  2010-09

7.  Genetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree.

Authors:  G K Suthers; S R Wilson
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

8.  Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).

Authors:  X X Gu; R Decorte; P Marynen; J P Fryns; J J Cassiman; P Raeymaekers
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

9.  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
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

10.  Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Authors:  Frederic Tran Mau-Them; Marjolaine Willems; Beate Albrecht; Elodie Sanchez; Jacques Puechberty; Sabine Endele; Anouck Schneider; Nathalie Ruiz Pallares; Chantal Missirian; Francois Rivier; Manon Girard; Muriel Holder; Sylvie Manouvrier; Isabelle Touitou; Genevieve Lefort; Pierre Sarda; Anne Moncla; Severine Drunat; Dagmar Wieczorek; David Genevieve
Journal:  Eur J Hum Genet       Date:  2013-05-15       Impact factor: 4.246
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