X-linked mental deficiency

Handbook of Clinical Neurology

Volumn 111, Issue , 2013, Pages 297-306

  Des Portes, Vincent ^a  

^a HOSPICES CIVILS DE LYON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876805426     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52891-9.00035-X     Document Type: Chapter

References (49)

1. Bear M.F., Huber K.M., Warren S.T. The mGluR theory of fragile X mental retardation. Trends Neurosci 2004, 27:370-377.
2. Bergmann C., Zerres K., Senderek J., et al. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 2003, 126:1537-1544.
3. Biancalana V., Beldjord C., Taillandier A., et al. Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. Am J Med Genet 2004, 129:218-224.
4. Bienvenu T., Poirier K., Friocourt G., et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002, 11:981-991.
5. Billuart P., Bienvenu T., Ronce N., et al. Oligophrenin 1, a novel gene encoding a rho-GAP protein involved in X-linked non-specific mental retardation. Nature 1998, 392:923-926.
6. Brown W.T. The FRAXE syndrome: is it time for routine screening?. Am J Hum Genet 1996, 58:903-905.
7. Charnas R.L., Bernardini I., Rader D., et al. Clinical and laboratory findings in the oculo-cerebrorenal syndrome of Lowe, with special reference to growth and renal fucntions. N Engl J Med 1991, 324:1318-1325.
8. Chelly J., Mandel J.L. Monogenic causes of X-linked mental retardation. Nat Rev Genet 2001, 2:669-680. [Review].
9. Chiurazzi P., Schwartz C., Gecz J., et al. XLMR genes: update 2007. Eur J Hum Genet 2008, 16:422-434.
10. Cohen D., Lazar G., Couvert P., et al. MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry 2002, 159:148-149.
11. Couvert P., Bienvenu T., Aquaviva C., et al. MECP2 gene is highly mutated in X-linked mental retardation. Hum Mol Genet 2001, 10:941-946.
12. Crawford D.C., Acuna J.M., Sherman S.L. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001, 3:359-371.
13. de Brouwer A.P., Yntema H.G., Kleefstra T., et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007, 28:207-208.
14. des Portes V., Boddaert N., Sacco S., et al. Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene. Am J Med Genet 2004, 124A:364-371.
15. Dotti M.T., Orrico A., De Stefano N., et al. A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology 2002, 58:226-230.
16. Dumitrescu A.M., Liao X.H., Best T.B., et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004, 74:168-175.
17. Geerdink N., Rotteveel J.J., Lammens M., et al. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 2002, 33:33-36.
18. Germanaud D., Rossi M., Bussy G., et al. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1 mutated males. Clin Genet 2011, 79:225-235.
19. Gibbons R., Picketts D.J., Villard L., et al. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 1995, 80:837-845.
20. Gomot M., Gendrot C., Verloes A., et al. MECP2 gene mutations in non-specific X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet 2003, 123:129-139.
21. Guerrini R., Moro F., Kato M., et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 2007, 69:427-433.
22. Hagerman R. Physical and behavioral phenotype. Fragile X Syndrome: Diagnosis, Treatment and Research 2002, 3-87. The Johns Hopkins University Press, Baltimore. 3rd edn. R. Hagerman, A. Cronister (Eds.).
23. Herbst D.S., Miller J.R. Non specific X-linked mental retardation. Am J Med Genet 1980, 7:461-469.
24. Jacquemont S., Hagerman R.J., Leehey M., et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003, 72:869-878.
25. Kato M., Saitoh S., Kamei A., et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007, 81:361-366.
26. Kitamura K., Yanazawa M., Sugiyama N., et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002, 32:359-369.
27. Klauck S.M., Lindsay S., Beyer K.S., et al. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 2002, 70:1034-1037.
28. Kleefstra T., Franken C., Arens Y., et al. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet 2004, 66:318-326.
29. Laccone F., Zoll B., Huppke P., et al. MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. J Med Genet 2002, 39:586-588.
30. Lebel R.R., May M., Pouls S., et al. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet 2002, 61:139-145.
31. Lowe C.U., Terrey M., McLachlan E.A. Organic aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation: a clinical entity. Am J Dis Child 1952, 83:164-184.
32. Mandel J.L., Chelly J. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004, 12:689-693.
33. Martin J.P., Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry 1943, 6:154-157.
34. Merienne K., Jacquot S., Pannetier S., et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet 1999, 22:13-14.
35. Moncla A., Kpebe A., Missirian C., et al. Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling. Eur J Hum Genet 2002, 10:86-89.
36. Musumeci S., Hagerman R., Ferri R., et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia 1999, 40:1092-1099.
37. Oberlé I., Rousseau F., Heitz D., et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097-1102.
38. Opitz J.M., Holt M.C., Spano L.M. Bibliography of X-linked mental retardation and related subjects. III. Am J Med Genet 1986, 23:69-99.
39. Pasteris N.G., Cadle A., Logie L., et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 1994, 79:669-678.
40. Philip N., Chabrol B., Lossi A.M., et al. Mutations in the oligophrenin-1 gene (OPHN1) cause X-linked congenital cerebellar hypoplasia. J Med Genet 2003, 40:441-446.
41. Ropers H.H., Hamel B.C.J. X-linked mental retardation. Nat Rev Genet 2005, 6:46-57.
42. Stevenson R., Bennett C., Abidi F., et al. Renpenning syndrome comes into focus. Am J Med Genet 2005, 134A:415-421.
43. Stromme P., Mangelsdorf M.E., Shaw M.A., et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002, 30:441-445.
44. Sutherland G.R. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977, 197:265-266.
45. Trivier E., De Cesare D., Jacquot S., et al. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996, 384:567-570.
46. Van Esch H., Bauters M., Ignatius J., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005, 77:442-453.
47. Vaurs-Barrière C., Deville M., Sarret C., et al. Pelizaeus-Merzbacher-Like Disease presentation of MCT8 mutated males. Ann Neurol 2009, 65:114-118.
48. Villard L. MECP2 mutations in males. J Med Genet 2007, 44:417-423.
49. Yntema H.G., Poppelaars F.A., Derksen E., et al. Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 2002, 110:243-247.