Literature DB >> 1605227

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

C E Schwartz1, M May, T Huang, D Ledbetter, G Anderson, D F Barker, H A Lubs, F Arena, R E Stevenson.   

Abstract

A family in which 6 males have X-linked mental retardation has been studied with polymorphic DNA probes. The males differ from unaffected males only in impaired intellect and in smaller head size. The gene that causes mental retardation in the family appears to be located in band Xq21 on the basis of linkage with 3 markers: DXS250, DXS345 and DXS3 (theta max = 0.00; Zmax = 1.6). A multipoint lod score of 2.36 was obtain with no recombination relative to DXS326 in Xq21. This family is considered to have nonspecific X-linked mental retardation and has been given the designation MRX8.

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Year:  1992        PMID： 1605227     DOI： 10.1002/ajmg.1320430170

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


  5 in total

1.  Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Authors:  L Colleaux; M May; J Belougne; D Lepaslier; C Schwartz; M Fontes
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

2.  X-linked mental retardation: in pursuit of a gene map.

Authors:  C E Schwartz
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

3.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

4.  Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Authors:  L Villard; A Toutain; A M Lossi; J Gecz; C Houdayer; C Moraine; M Fontès
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

5.  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
  5 in total

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