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Literature DB >> 3177467

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

G R Sutherland¹, A K Gedeon, E A Haan, P Woodroffe, J C Mulley.

Abstract

A family in which a gene (MRX2) is segregating for an X-linked syndrome of mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes and possible intra-uterine growth retardation is described. There are 7 clearly affected males and one possibly affected infant in the family. The obligate carriers are normal. Linkage studies show a suggestion of linkage to loci near the centromere. The maximum lod score was 2.10 at theta = 0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (theta = 0.14; z = 1.29) and DXS94 (theta = 0.11; z = 1.22).

Entities: Disease Gene Mutation Species

Mesh：

Year: 1988 PMID： 3177467 DOI： 10.1002/ajmg.1320300152

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

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Cited

12 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. Renpenning syndrome maps to Xp11.

Authors: R E Stevenson; J F Arena; E Ouzts; A Gibson; M H Shokeir; C Vnencak-Jones; H A Lubs; M May; C E Schwartz
Journal: Am J Hum Genet Date: 1998-05 Impact factor: 11.025

5. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

Authors: F Martínez; M Tomás; J M Millán; A Fernández; F Palau; F Prieto
Journal: J Med Genet Date: 1998-04 Impact factor: 6.318

10. X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.

Authors: J P Fryns; A Spaepen; J J Cassiman; H van den Berghe
Journal: J Med Genet Date: 1991-06 Impact factor: 6.318

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

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

Review 2. X linked mental retardation.

Review 3. Non-specific X linked mental retardation.

4. Renpenning syndrome maps to Xp11.

5. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

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

7. The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

8. A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

9. DXS26 (HU16) is located in Xq21.1.

10. X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.