Nonsyndromic X-linked mental retardation: Where are the missing mutations?

Trends in Genetics

Volumn 19, Issue 6, 2003, Pages 316-320

  Ropers, Hans Hilger ^a   Hoeltzenbein, Maria ^a   Kalscheuer, Vera ^a   Yntema, Helger ^b   Hamel, Ben ^b   Fryns, Jean Pierre ^c   Chelly, Jamel ^d   Partington, Michael ^e   Gecz, Jozef ^f   Moraine, Claude ^g  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d INSTITUT COCHIN   (France)

^e UNIVERSITY OF NEWCASTLE   (Australia)

^f WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^g CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE CLUSTER; GENE MUTATION; GENETIC DISORDER; HUMAN; LINKAGE ANALYSIS; MENTAL DEFICIENCY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; REVIEW; X CHROMOSOME; X CHROMOSOME LINKAGE;

EID: 0037866676     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(03)00113-6     Document Type: Review

References (34)

1. Turner G., et al. Renpenning syndrome - X-linked mental retardation. Lancet. 2:1970;365-366.
2. Lehrke R.A. A theory of X-linkage of major intellectual traits. Am. J. Ment. Defic. 76:1972;611-619.
3. Herbst D.S., Miller J.R. Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am. J. Med. Genet. 7:1980;461-469.
4. Chiurazzi P., et al. XLMR genes: update 2000. Eur. J. Hum. Genet. 9:2001;71-81.
5. Turner G., et al. Prevalence of fragile X syndrome. Am. J. Med. Genet. 64:1996;196-197.
6. de Vries L.B., et al. A large diagnostic program for the fragile X syndrome among the mentally handicapped. I. An epidemiologic survey. Ned. Tijdschr. Geneeskd. 142:1998;1666-1671.
7. Knight S.J., et al. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet. 55:1994;81-86.
8. Gécz J., et al. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat. Genet. 13:1996;105-108.
9. Meloni I., et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am. J. Hum. Genet. 67:2000;982-985.
10. Merienne K., et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat. Genet. 22:1999;13-14.
11. Stromme P., et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30:2002;441-445.
12. Chelly J., Mandel J.-L. Monogenic causes of X-linked mental retardation. Nat. Rev. Genet. 2:2001;669-678.
13. Gécz J., Mulley J. Genes for cognitive function: developments on the X. Genome Res. 10:2000;157-163.
14. Gedeon A.K., et al. How many X-linked genes for non-specific mental retardation (MRX) are there? Am. J. Med. Genet. 64:1996;158-162.
15. Claes S. Localization of genetic factors for nonspecific and syndromic X-linked mental retardation. Thesis. Acta Biomedica Lovaniensia 160. 1997;Leuven University Press.
16. Bienvenu T., et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum. Mol. Genet. 11:2002;981-991.
17. Scheffer I.E., et al. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology. 59:2002;348-356.
18. Broman K.W., et al. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63:1998;861-869.
19. Gecz J., et al. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat. Genet. 13:1996;105-108.
20. D'Adamo P., et al. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat. Genet. 19:1998;134-139.
21. Couvert P., et al. MECP2 is highly mutated in X-linked mental retardation. Hum. Mol. Genet. 10:2001;941-946.
22. Yntema H.G., et al. Low frequency of MECP2 mutations in mentally retarded males. Eur. J. Hum. Genet. 10:2002;487-490.
23. Hahn K.A., et al. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am. J. Hum. Genet. 70:2002;1349-1356.
24. Russo S., et al. Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. Am. J. Med. Genet. 94:2000;376-382.
25. Allen K.M., et al. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat. Genet. 20:1998;25-30.
26. Kutsche K., et al. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat. Genet. 26:2000;247-250.
27. Meloni I., et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat. Genet. 30:2002;436-440.
28. Vervoort V.S., et al. AGTR2 mutations in X-linked mental retardation. Science. 296:2002;2401-2403.
29. Turner G., Partington M.W. Genes for intelligence on the X chromosome. J. Med. Genet. 28:1991;429.
30. Nokelainen P., Flint J. Genetic effects on human cognition: lessons from the study of mental retardation syndromes. J. Neurol. Neurosurg. Psychiatry. 72:2002;287-296.
31. Carrié A., et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat. Genet. 23:1999;25-31.
32. Zemni R., et al. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat. Genet. 24:2000;167-170.
33. Billuart P., et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature. 392:1998;923-926.
34. Rosenberger G., et al. Interaction of αPIX (ARHGEF6) with β-parvin (PARVB) suggests an involvement of αPIX in integrin-mediated signaling. Hum. Mol. Genet. 12:2003;155-167.