FMR1 fuiiy expanded mutation with minimal methylation in a high functioning fragile X male

Journal of Medical Genetics

Volumn 33, Issue 5, 1996, Pages 376-378

  Wang, Zhimin ^a   Taylor, Annette K ^b   Bridge, Julia A ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b Kimball Genetics Inc   (United States)

Author keywords

FAIR! gene; Fragile X syndrome; Methyl ation

Indexed keywords

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DNA METHYLATION; FAMILY HISTORY; FRAGILE X SYNDROME; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL;

ADULT; BLOTTING, SOUTHERN; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; METHYLATION; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0029921704     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Gustavson G, Bloomquist HK, Holmgren G. Prevalence of the fragile-X syndrome in mentally retarded children in a Swedish county. Am J Med Genet 1986;23:581-7.
2. Lubs HA. A marker X-chromosome. Am J Hum Genet 1969;21:231-14.
3. Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977;197:256-66.
4. Webb T, Bundey S, Thake J, Todd A. The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet 1986;23:396-9.
5. Bell MV, Hirst MC, Nakahori Y, et al. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 1991;64:861-6.
6. Hagerman RJ. Physical and behavioural phenotype. In: Hagerman RJ, Cronister-Silverman A, eds. Fragile X syndrome, diagnosis, treatment and research. Baltimore: The Johns Hopkins University Press, 1991: 89-145.
7. Kremer EJ, Pritchard M, Lynch M, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CGG), Science 1991;252:1711-14.
8. Verkerk, AJMH, Pieretti M, Sutcliffe JS, et al. 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;65:905-14.
9. Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991;252:1179-81.
10. Hagerman RJ, Hull CE, Safanda JF, et al. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994;51:298-308.
11. McConkie-Rosell A, Lachewicz AM. Spiridigliozzi GA, et al. Evidence that methylation of the FMR1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Med Genet 1993;53:800-9.
12. Merenstein S, Shyu V, Sobesky WE, Staley L, Taylor AK, Hagerman RJ. Fragile X in a male with normal IQ and learning disabilities. J Am Acad Child Adolesc Psychiatry 1994;33:1316-21.
13. Sherman SL, Jacobs PA, Morton NE, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985;69:289-99.
14. Taylor AK, Safanda JF, Lugenbeel KA, Nelson DL, Hagerman RJ. Molecular and phenotypic studies of fragile X males with variant methylation of the FMR1 gene reveal that the degree of methylation influences clinical severity. Am J Hum Genet 1944;51:A18.
15. Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA fragment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-102.
16. Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-81.
17. Taylor AK, Safanda JF, Fall L, et al. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 1994;271:507-14.
18. Jacky P. Cytogenetics. In: Hagerman RJ, Cronister-Silverman A, eds. Fragile X syndrome, diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 1991:89-145.
19. Warren ST, Zhang F, Lokey LK, et al. Influence of CGG repeat length upon FMR1 transcription and translation. Am J Hum Genet 1994;51:A18.
20. Reyniers E, Vits L, Boulle KD, et al. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genet 1993;4:143-6.
21. Wöhrle D, Henning I, Vogel W, Steinbach P. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptinal trinucleotide repeat expansion. Nature Genet 1993;4:140-2.