Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: Identification of a case of FRAXE-associated mental retardation

Human Genetics

Volumn 100, Issue 5-6, 1997, Pages 503-507

  Milà, Montserrat ^a   Sànchez, Aurora ^a   Badenas, Cèlia ^a   Brun, Carme ^a   Jiménez, Dolores ^a   Paula Villa, M ^a   Castellví Bel, Sergi ^a   Estivill, Xavier ^a  

^a HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL FEATURE; DNA METHYLATION; FRAGILE X SYNDROME; GENE MUTATION; GENETIC SCREENING; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL; SOUTHERN BLOTTING; SPAIN; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; DNA METHYLATION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; HUMANS; MALE; MOSAICISM; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; PROTEINS; PSYCHOTIC DISORDERS; RNA-BINDING PROTEINS; SCHOOLS; SPAIN; TRANS-ACTIVATORS; TRINUCLEOTIDE REPEATS; X CHROMOSOME;

EID: 2642615360     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050542     Document Type: Article

References (25)

1. Allingham-Hawkins DJ, Ray PN (1995) FRAXE expansion is not a common etiologic factor among developmentally delayed males. Am J Hum Genet 57:72-76
2. Barnicoat AJ, Turk J, Green E, Mathew CG, Flynn G, Buckle V, Hirst M, Davies K, Bobrow M (1997) Clinical, cytogenetic and molecular analysis of three families with FRAXE. J Med Genet 34:13-17
3. Biancalana V, Taine L, Bouix JC, Finck S, Chauvin A, De Verneuil H, Knight SJL, Stoll C, Lacombe D, Mandel JL (1996) Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am J Hum Genet 59:847-854
4. Brown WT (1996) The FRAXE syndrome: is it time for routine screening? Am J Hum Genet 58:903
5. Gabarrón J, López I, Glover G, Carbonell P (1992) Fragile X screening program in a Spanish region. Am J Med Genet 43:333-338
6. Gécz J, Oostra BA, Hockey A, Carbonell P, Turner G, Haan E, Sutherland GR, Mulley JC (1997) FMR2 expression in families with FRAXE mental retardation. Hum Mol Genet 6:435-441
7. Hagerman RJ, Amiri K, Conister A (1991) Fagile X checklist. Am J Hum Genet 38:283-287
8. Hagerman RJ, Wilson P, Staley LW, Lang KA, Fan T, Uhlhorn C, Jewell-Smart S, Holden JJA, Chalifoux M, Wing M, Julien-Innalsingh C, Scott E, Fidler K, White BN (1994) Screening of two institutions for FMR-1 gene mutations using PCR and Southern blotting (abstract). Fourth International Fragile X Conference, the National Fragile X Foundation, Albuquerque, NM.
9. Hamel BCJ, Smits AP, Graaff E de, Smeets DFCM, Schoute F, Eussen BHJ, Knight SJL, Davies KE, Assman-Hulsmans CFCH (1994) Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic and molecular data. Am J Hum Genet 55:923-931
10. Holden JJA, Chalifoux M, Wing M, Julien-Inalsingh C, Scott E, Fidler K, White BN (1994) Screening of two institutions for FMR1 gene mutations using PCR and Southern blotting (abstract). Fourth International Fragile X Conference, the National Fragile X Foundation, Albuquerque, NM.
11. Holinski-Feder E, Chahrokhzadeh S, Baldwin JK, Meindl A, Steinbach P, Wöhrle D (1996) FRAXE testing. Am J Hum Genet 59:1168-1169
12. Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennis NR (1993) Population studies of fragile X: a molecular approach. J Med Genet 30:454-459
13. Knight SJ, Flannery AV, Hirst MC, Campell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134
14. Knight SJ, Ritchie RJ, Chakrabarti L, Cross G, Taylor GR, Mueller RF, Hurst J, Paterson J, Yates JR, Dow DJ, Davies KE (1996) A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Am J Hum Genet 58:906-913
15. Morton JE, Bundey S, Webb TP, MacDonal F, Rindl PM, Bullock S (1997) Fragile X syndrome is less common than previously estimated. J Med Genet 34:1-5
16. Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, Lopez I, Glover G, Gabarron I, Yu PWL, Baker E, Haan EA, Hockey A, Knight SJL, Davies KE, Richards RI, Sutherland GR (1995) FRAXE and mental retardation. J Med Genet 32:162-169
17. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas M, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
18. Poon PMK, Lam STS, Chan AKH, Pang CCP (1994) Fragile X syndrome in institutionalized mentally retarded patients in Hong Kong (abstract). Fourth International Fragile X Conference, the National Fragile X Foundation, Albuquerque, NM.
19. Rosenberg M, Greenhill S, Marion R, Brown WT, Jenkins E (1995) Unexpectedly low incidence of fragile X syndrome (FRAX) in high-risk population of inner-city developmentally disabled (DD) children. Am J Hum Genet 57:A 663
20. Slaney SF, Wilkie AO, Hirst MC, Charlton R, McKinley M, Pointon J, Christodoulou Z, Huson SM, Davies KE (1995) DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child 72:33-37
21. Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns JP, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P (1996) Seventh international workshop on the fragile X and X-linked mental retardation. Am J Med Genet 64:1-14
22. Turner G, Webb T, Wake S, Robinson H (1996) Prevalence of fragile X syndrome. Am J Med Genet 64:196-197
23. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl PA, Pizutti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, Van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunts CB, Galjaard H, Caskey CT, Nelson D, Oostra BA, Warren ST (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
24. Wang Q, Green E, Bobrow M, Mathew CG (1995) A rapid, nonradioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 32:170-173
25. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schelessinger D, Sutherland GR, Richards RI (1991) Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181