Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

European Journal of Human Genetics

Volumn 19, Issue 8, 2011, Pages 921-923

  Madrigal, Irene ^a   Xunclà, Mar ^b   Tejada, Maria Isabel ^c,d   Martínez, Francisco ^d,e   Fernández Carvajal, Isabel ^d,f   Pérez Jurado, Luís Alberto ^g   Rodriguez Revenga, Laia ^a   Mil, Montserrat ^a,d,h  

^a HOSPITAL CLÍNIC   (Spain)

^b Fundacio Clinic Per a la Recerca Biomedica   (Spain)

^c HOSPITAL DE CRUCES   (Spain)

^d GIRMOGEN   (Spain)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f UNIVERSITY OF VALLADOLID   (Spain)

^g UNIVERSITAT POMPEU FABRA   (Spain)

^h INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BEHAVIOR GENETICS; CHILD; COGNITION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE TRANSMISSION; FEMALE; FRAGILE X SYNDROME; GENE LOCUS; GENE MUTATION; GEOGRAPHICAL VARIATION (SPECIES); HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPAIN;

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; AUTISTIC DISORDER; COHORT STUDIES; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; HUMANS; MALE; SPAIN; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 79960644425     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.41     Document Type: Article

References (27)

1. Crawford DC, Acuna JM, Sherman SL: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001; 3: 359-371.
2. Crawford DC, Meadows KL, Newman JL et al: Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 2002; 110: 226-233. (Pubitemid 34627626)
3. de Vries BB, Mohkamsing S, van den Ouweland AM et al: Screening with the FMR1 protein test among mentally retarded males. Hum Genet 1998; 103: 520-522. (Pubitemid 28542967)
4. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000; 66: 6-15. (Pubitemid 30481464)
5. Hagerman RJ, Leehey M, Heinrichs W et al: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-130. (Pubitemid 32634862)
6. Jacquemont S, Hagerman RJ, Leehey M et al: Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-878. (Pubitemid 36403306)
7. Terracciano A, Pomponi MG, Marino GM et al: Expansion to full mutation of a FMR1 intermediate allele over two generations. Eur J Hum Genet 2004; 12: 333-336. (Pubitemid 38519347)
8. Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F: Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 2009; 11: 306-310.
9. Zuniga A, Juan J, Mila M, Guerrero A: Expansion of an intermediate allele of the FMR1 gene in only two generations. Clin Genet 2005; 68: 471-473. (Pubitemid 41535975)
10. Haddad LA, Aguiar MJ, Costa SS, Mingroni-Netto RC, Vianna-Morgante AM, Pena SD: Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. Am J Med Genet 1999; 84: 198-201. (Pubitemid 29206966)
11. Youings SA, Murray A, Dennis N et al: FRAXA and FRAXE: the results of a five year survey. J Med Genet 2000; 37: 415-421. (Pubitemid 30386732)
12. Mitchell RJ, Holden JJ, Zhang C et al: FMR1 alleles in Tasmania: a screening study of the special educational needs population. Clin Genet 2005; 67: 38-46.
13. Crawford DC, Meadows KL, Newman JL et al: Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet 1999; 64: 495-507. (Pubitemid 129500531)
14. Patsalis PC, Sismani C, Hettinger JA et al: Frequencies of 'grey-zone' and premutationsize FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. Am J Med Genet 1999; 84: 195-197. (Pubitemid 29206965)
15. Mornet E, Chateau C, Simon-Bouy B, Serre JL: The intermediate alleles of the fragile X CGG repeat in patients with mental retardation. Clin Genet 1998; 53: 200-201. (Pubitemid 28210077)
16. Otsuka S, Sakamoto Y, Siomi H et al: Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev 2010; 32: 110-114.
17. Tejada MI, Duran M: Screening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et al. Community Genet 1999; 2: 49-50. (Pubitemid 29493017)
18. Fernandez-Carvajal I, Walichiewicz P, Xiaosen X, Pan R, Hagerman PJ, Tassone F: Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn 2009; 11: 324-329.
19. Fu YH, Kuhl DP, Pizzuti A et al: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-1058. (Pubitemid 121001519)
20. Meadows KL, Pettay D, Newman J, Hersey J, Ashley AE, Sherman SL: Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet 1996; 64: 428-433.
21. Murray A, Youings S, Dennis N et al: Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996; 5: 727-735. (Pubitemid 26171287)
22. Arrieta MI, Ramirez JM, Telez M et al: Analysis of the fragile X trinucleotide repeat in basques: association of premutation and intermediate sizes, anchoring AGGs and linked microsatellites with unstable alleles. Curr Genomics 2008; 9: 191-199. (Pubitemid 351895022)
23. Loesch DZ, Godler DE, Khaniani M et al: Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A 2009; 149A: 2306-2310.
24. Eichler EE, Holden JJ, Popovich BW et al: Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 1994; 8: 88-94. (Pubitemid 24274066)
25. Levesque S, Dombrowski C, Morel ML et al: Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin Genet 2009; 76: 511-523.
26. Dombrowski C, Levesque S, MorelML, Rouillard P, Morgan K, Rousseau F: Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002; 11: 371-378. (Pubitemid 34213610)
27. Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL: Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet 1995; 4: 2199-2208.