Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: Absence of prevalent mutations

Human Genetics

Volumn 102, Issue 4, 1998, Pages 440-445

  Grønskov, Karen ^a   Hallberg, Anni ^a   Brøndum Nielsen, Karen ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; EXON; FRAGILE X SYNDROME; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; IMMUNOBLOTTING; INTRON; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE REPEAT; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; NERVE TISSUE PROTEINS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS; TESTIS;

EID: 0031895949     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050718     Document Type: Article

References (39)

1. Abitbol M, Menini C, Delezoide AL, Rhyner T, Vekemans M, Mallet J (1993) Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nat Genet 4:147-153
2. Ashley CT Jr, Wilkinson KD, Reines D, Warren ST (1993) FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262:563-566
3. Berg MA, Guevara Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U (1992) Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome. Hum Mutat 1:24-32
4. Birot AM, Delobel B, Gronnier P, Bonnet V, Maire I, Bozon D (1996) A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. Hum Mutat 7:266-268
5. Boulle K De, Verkerk AJ, Reyniers E, Vits L, Hendrickx J, Roy B Van, Bos F Van den, Graaff E de, Oostra B A, Willems PJ (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 3:31-35
6. Brøndum-Nielsen K, Tommerup N, Dyggve HV, Schou C (1982) Macroorchidism and fragile X in mentally retarded males. Hum Genet 61:113-117
7. Chiurazzi P, Graaff E de, Ng J, Verkerk AJMH, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA (1994) No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. Am J Med Genet 51:309-314
8. Coy JF, Sedlacek Z, Bachner D, Hameister H, Joos S, Lichter P, Delius H, Poustka A (1995) Highly conserved 3′ UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. Hum Mol Genet 4:2209-2218
9. Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4:335-340
10. Eichler EE, Richards S, Gibbs RA, Nelson DL (1993) Fine structure of the human FMR1 gene [published erratum appears in Hum Mol Genet 1994 Apr; 3(4):684-685]. Hum Mol Genet 2:1147-1153
11. Fridell RA, Benson RE, Hua J, Bogerd HP, Cullen BR (1996) A nuclear role for the Fragile X mental retardation protein. EMBO J 15:5408-5414
12. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
13. Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR, et al (1992) Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet 1:341-344
14. Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K (1997) Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. Am J Hum Genet 61:961-967
15. Gu Y, Lugenbeel KA, Vockley JG, Grody WW, Nelson DL (1994) A de novo deletion in FMR1 in a patient with developmental delay. Hum Mol Genet 3:1705-1706
16. Hart PS, Olson SM, Crandall K, Tarleton J (1995) Fragile X syndrome resulting from a 400 base-pair deletion within the FMR1 gene. Am J Hum Genet Suppl 57:A1395 (Abstract)
17. Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M (1993) Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome [see comments] [published erratum appears in Nat Genet 1993 Nov; 5(3):312]. Nat Genet 3:36-43
18. 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
19. Khandjian EW, Corbin F, Woerly S, Rousseau F (1996) The fragile X mental retardation protein is associated with ribosomes. Nat Genet 12:91-93
20. Li X, Park WJ, Pyeritz RE, Jabs EW (1995) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome [letter]. Nat Genet 9:232-233
21. Lindsay S, Splitt M, Edney S, Berney TP, Knight SJ, Davies KE, O'Brien O, Gale M, Burn J (1996) PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28 [see comments]. Am J Hum Genet 58:1120-1126
22. Liu W, Qian C, Francke U (1997) Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 16:328-329
23. Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL (1995) Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet 10:483-485
24. Meijer H, Graaff E de, Merckx DM, Jongbloed RJ, Smulders CE de Die, Engelen JJ, Fryns JP, Curfs PM, 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
25. 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
26. Oostra BA, Halley DJ (1995) Complex behavior of simple repeats: the fragile X syndrome. Pediatr Res 38:629-637
27. 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
28. Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ (1996) Severe mental retardation and macroorchidism without mutation in the FMR1 gene. Am J Med Genet 64:408-412
29. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G (1993) The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74:291-298
30. Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum RL, Dreyfuss G (1995) FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J 14:2401-2408
31. Siomi MC, Zhang Y, Siomi H, Dreyfuss G (1996) Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them. Mol Cell Biol 16:3825-3832
32. Sittler A, Devys D, Weber C, Mandel JL (1996) Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmrl protein isoforms. Hum Mol Genet 5:95-102
33. Tamanini F, Meijer N, Verheij C, Willems PJ, Galjaard H, Oostra B A, Hoogeveen AT (1996) FMRP is associated to the ribosomes via RNA. Hum Mol Genet 5:809-813
34. Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A (1993) An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum Mol Genet 2:1973-1974
35. Trottier Y, Imbert G, Poustka A, Fryns JP, Mandel JL (1994) Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. Am J Med Genet 51:454-457
36. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al (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
37. Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poustka A, Davies KE, et al (1992) A microdeletion of less than 250 kb, including the proximal part of the FMR-I 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. Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Dyke DL Van, Schwartz S, Willard HF (1997) Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. Hum Genet 100:256-262
39. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G (1995) The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J 14:5358-5366