Genetic and molecular studies of 85 families affected with fragile X syndrome;ESTUDIO GENETICO Y MOLECULAR DE 85 FAMILIAS AFECTAS DEL SINDROME DEL CROMOSOMA X FRAGIL

Anales Espanoles de Pediatria

Volumn 44, Issue 3, 1996, Pages 250-256

  Mila Recasens M ^a   Sanchez Diaz A ^a   Glover Lopez G ^b   Castellvi Bel S ^a   Carbonell Meseguer, P ^b   Kruyer, H ^c   Ballesta Martinez F ^a   Estivill Palleja X ^a,c  

^a HOSPITAL CLÍNIC   (Spain)

^b Ctro de Bioquim/Genet Clin   (Spain)

^c HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

(CGG)n repeats; FMR 1 gene; fragile X syndrome; mental retardation

Indexed keywords

ARTICLE; CYTOGENETICS; DISEASE CARRIER; FEMALE; FRAGILE X SYNDROME; GENETICS; HUMAN; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; POLYMERASE CHAIN REACTION; ALLELE; DNA PROBE; HETEROZYGOTE; METHODOLOGY; MOLECULAR GENETICS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; RISK FACTOR; SPAIN;

DNA;

ALLELES; BASE SEQUENCE; DNA; DNA PROBES; FEMALE; FRAGILE X SYNDROME; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; RISK FACTORS; SPAIN;

EID: 0029916705     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J.Neurol Neurosurg Psychiatry 1943;6:154-160.
2. Hagerman R, Amiri K, Conister A. Fragile X checklist. Am J Hum Genet 1991;38:283-287.
3. Lubs HA . A marker X chromosome. Am J Hum Genet 1969;21:231-235.
4. Oberlé L Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas M, Mandel JL. Instability of a 550-base pair DNA segment and abnormal methylation in Fragile X syndrome. Science 1991;252:1097-1102.
5. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schelessinger D. S Utherland GR, Richards RI. Fragile X genotype characterized by an unstable region of DNA. Science 1991;252:1179-1181.
6. 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. Identification of a gene (FMR-1) containing a CGG Repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X Syndrome. Cell 1991;65:905-914.
7. Pieretti M, Zhang F, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson D. Absence of Expression of the FMR-1 Gene in Fragile X Syndrome Cell 1991;66:817-822.
8. Fu YH, Kuhl PA, Pizutti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JA, Fenwik RG, Warren ST, Zhang F, Oostra BA, Caskey CT, Nelson D. Variation of the egg repeat at the fragile x site results in genetic instability : resolution of the sherman paradox. Cell 1991;67:1047-1058.
9. Gustavson KH, Blomquist H, Holmgren G. Prevalence of fragile-X syndrome in mentally retarded children in a Swedish country. Am J Med Genet 1986; 23: 581-588.
10. Webb TP , Bundey SE, Thake AI, Todd J. Population incidence and segregation ratios in the Martin Bell syndrome. Am J Med Genet 1986;23:573-580.
11. Sherman SL, Morton NE, Jacobs PA, Turner G. The marker (X) syndrome: acytogenetic and genetic analysis. Ann Hum Genet 1984;48:21-37.
12. Sherman SL, Jacobs PA, Morton NE. Froster-lskenius U. Howard-Peebles PN, Nielsen KB, Partington NW, Sutherland GR, Turner G, Watson M. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985;69:3289-329.
13. Tizzano E, Gallano P, Baiget M. Importancia del diagnóstico molecular en la detectión de varones sanos transmisores de síndrome del X-frágil. An Esp Pediatr 1992;36:272-276.
14. Miller SA, Dykes DD, Polesky HP. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic aAcid Res 1988;16:1215.
15. Rousseau F, Heitz D, Biancalana V, Oberlé I,Mandel JL. On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet 1992;43:197-207.
16. Kruyer H, Milà M, Glover G, Carbonell P, Ballesta F, Estivill X. Fragile X syndrome and the (CGG)n mutation, two families with discordant monozygotic twins. Am J Hum Genet 1994;54:437-442.
17. Ramos FJ. Síndrome fragil X: ¿Que sabemos hoy?. An Esp Pediatr (1989);31:417-419.
18. García-Marcos JA, Moreno F, Pascual-Castroviejo I, López Pajares I, Delicado A, Lorenzo G. Diagnostico molecular en familias afectadas de síndrome X frágil. Rev Esp Pediatr (1992);48:183-188.
19. Hagerman R, Hull C, Carpenter I, Staley L, O'connor R, Seydel C, Mazzocco M, Taylor A. High functioning fragile X males. Am J Hum Genet 1993;53:A 144.
20. Mazzocco MMM, White BN, Holden JJA. The fragile X syndrome: A family with three homozygous fra(X) sisters. Am J Hum Genet 1993;53:A 143.
21. De Vries BA, Wiegers A, Graaff E, Verkerk A, Van Hemel JO, Halley D, Fryns JP, Curf L, Niermeijer M, Oostra B Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1993;1:72-79.
22. Rousseau F, Heitz D, Tarleton J, Macpherson J, Petterson U, Mathew C, Mornet E, Maddalena A, Schinzel A, Marcos Jag, Schorderet Df, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL. Fragile X collaborative group. Am J Hum Genet 1993;53:A 78.
23. Wöhrle D, Kotzot D, Hirtst M, Manca A, Korn B, Schmidt A. Gotthold B, Rott HD, Poutska A, Davies KE And Steinbach P. A microdeletion of less than 250kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of the fragile-X syndrome. Am J Hum Genet 1992;51:299-306.
24. Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GrR, Mulley JC. Fragile X syndrome without CGG amplification has an FMR1 deletion. Nat Genet 1992;1:341-344.
25. De Boulle K, Vcrkerk AJMH, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van Den Bos F, Graaff E, Oostra B, Willems PJ. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993;3:31-35.
26. Tarleton J, Richie R, Schwartz CH, Rac K, Aylsworth As, Lachiewicz A. An extensive de novo deletion removing FMR-1 in a patient with mental retardation and fragile X syndrome phenotype. Hum Mol Genet 1993;2:1973-1974.
27. Knight J, Flannery AV, Hirst MC, Campbell L, Christodoulou SR, Phelps SR.et al. Trinucleotide repeat amplification and hypermethylation of CpG island in FRAXE mental retardation. Cell (1993) 74:127-134.