Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

American Journal of Human Genetics

Volumn 72, Issue 2, 2003, Pages 454-464

  Nolin, Sarah L ^a   Brown, W Ted ^a   Glicksman, Anne ^a   Houck Jr , George E ^a   Gargano, Alice D ^a   Sullivan, Amy ^b   Biancalana, Valérie ^c   Bröndum Nielsen, Karen ^d   Hjalgrim, Helle ^d   Holinski Feder, Elke ^e   Kooy, Frank ^f   Longshore, John ^g   Macpherson, James ^h   Mandel, Jean Louis ^c   Matthijs, Gert ⁱ   Rousseau, Francois ^j   Steinbach, Peter ^k   Väisänen, Marja Leena ^l   Von Koskull, Harriet ^m   Sherman, Stephanie L ^b  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d JOHN F KENNEDY INSTITUTE   (Denmark)

^e UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g GREENWOOD GENETIC CENTER   (United States)

^h WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

ⁱ CENTER FOR HUMAN GENETICS   (Belgium)

^j UNIVERSITÉ LAVAL   (Canada)

^k UNIVERSITY OF ULM   (Germany)

^l OULU UNIVERSITY HOSPITAL   (Finland)

^m HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; FETUS; FRAGILE X MENTAL RETARDATION 1 GENE; FRAGILE X SYNDROME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC RISK; GENETIC STABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NUCLEOTIDE REPEAT; PRENATAL DIAGNOSIS; PRENATAL PERIOD; PRIORITY JOURNAL; RISK ASSESSMENT; RNA TRANSLATION;

EID: 0037320928     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/367713     Document Type: Article

References (39)

1. Ashley-Koch AE, Robinson H, Glicksman AE, Nolin SL, Schwartz CE, Brown WT, Turner G, Sherman SL (1998) Examination of factors associated with instability of the FMR1 CGG repeat. Am J Hum Genet 63:776-785
2. Brown WT, Houck GE, Jeziorowska A, Levinson F, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC (1993) Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575
3. Brown WT, Houck GE, Ding X, Zhong N, Nolin S, Glicksman A, Dobkin C, Jenkins EC (1996) Reverse mutations in the fragile X syndrome. Am J Med Genet 64:287-292
4. Crawford DC, Acuna JM, Sherman SL (2001) FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 3:359-371
5. Crawford DC, Meadows KL, Newman JL, Taft LF, Scott E, Leslie M, Shubec L, Holmgreen P, Yeargin-Allsopp M, Boyle C, Sherman SL (2002) Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 110:226-233
6. Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94
7. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
8. Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR, Mulley JC (1992) Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet 1:341-344
9. Gu Y, Lugenbeel KA, Vockley JG, Grody WW, Nelson D (1994) A de novo deletion in FMR1 in a patient with developmental delay. Hum Mol Genet 3:1705-1706
10. Hagerman RJ, Hagerman PJ (2002) The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 12:278-283
11. Heitz D, Rousseau F, Devys D, Saccone S, Abderrahim H, Le Paslier D, Cohen D, Vincent A, Toniolo D, Della Valle G, Honhson S, Schlessinger D, Oberlé I, Mandel JL (1991) Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science 251:1236-1239
12. Hirst M, Grewal P, Flannery A, Slatter R, Maher E, Barton D Fryns JP, Davies K (1995) Two new cases of FMR1 deletion associated with mental impairment. Am J Hum Genet 56:67-74
13. Kunst CB, Warren ST (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861
14. Levinson G, Maddalena A, Palmer FT, Harton GL, Bick DP, Howard-Peebles PN, Black SH, Schulman JD (1994) Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 51:527-534
15. Loesch DZ, Huggins R, Petrovic V, Slater H (1995) Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring. Am J Hum Genet 57:1408-1413
16. Meijer H, de Graaff E, Merckx DML, Jongbloed RJE, de Die-Smulders CEM, Engelen JJM, Fryns JP, Curfs PMG, Oostra BA (1994) A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet 3:615-620
17. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P (1996) Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 5:727-735
18. Nolin SL, Lewis FA 3rd, Ye LL, Houck GE Jr, Glicksman AE, Limprasert P, Li SY, Zhong N, Ashley AE, Feingold E, Sherman SL, Brown WT (1996) Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 59:1252-1261
19. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
20. Pesso R, Berkenstadt M, Cuckle H, Gak E, Pelet L, Frydman M, Barkai G (2000) Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 20:611-614
21. Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW (1995) An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am J Hum Genet 56:1042-1051
22. Parvari R, Mumm S, Galil A, Manor E, Bar-David Y, Carmi R (1999) Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. Am J Med Genet 83:302-307
23. Pieretti, M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-822
24. Rousseau F, Heitz D, Tarleton J, Macpherson J, Malmgren H, Dahl N, Barnicoat A Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schorderet DF, Schaap T, Maccioni I, Russo S, Jacobs PA, Schwartz C, Mandel JL, Sherman S (1994) Higher rate of transition from fragile X premutations into full mutation in males than in females suggest post-conceptional expansion of the CGG repeats. Am J Hum Genet Suppl 55:A240
25. Sherman SL (2000) Premature ovarian failure in the fragile X syndrome. Am J Med Genet 97:189-194
26. Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993) Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53:1217-1228
27. Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN (1994) Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet 3:1543-1551
28. Sullivan AK, Crawford DC, Scott EH, Leslie ML, Sherman SL (2002) Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet 70:1532-1544
29. Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992) DNA methylation represses FRM-1 transcription in fragile X syndrome. Hum Mol Genet 1:397-400
30. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66:6-15
31. Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M (2001) Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69:351-360
32. Turner G, Webb T, Robinson H (1996) Prevalence of fragile X syndrome. Am J Med Genet 64:196-197
33. Van den Ouweland AMW, Deelen WH, Kunst CB, Uzielli ML, Nelson DL, Warren ST, Oostra BA, Halley DJJ (1994) Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet 3:1823-1827
34. Väisänen ML, Kähkönen M, Leisti J (1994) Diagnosis of fragile X syndrome by direct mutation analysis. Hum Genet 93:143-147
35. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP (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
36. Vits L, De Boulle K, Reyniers E, Handig I, Darby JK, Oostra B, Willems PJ (1994) Apparent regression of the CGG repeat in FMR1 to an allele of normal size. Hum Genet 94:523-526
37. Wöhrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poustka A, Davies KE, Steinbach P (1992) A microdeletion of less than 250 kb, including the proximal part of the FMR1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 51:299-306
38. Yu S, Mulley J, Loesch D, Turner G, Donelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, Sutherland GR, Richards RI (1992) Fragile-X syndrome: unique genetics of the heritable unstable element. Am J Hum Genet 50:968-980
39. Zhong N, Yang W, Dobkin C, Brown WT (1995) Fragile X gene instability: anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361