Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA

American Journal of Medical Genetics

Volumn 94, Issue 3, 2000, Pages 232-236

  Tassone, Flora ^a   Hagerman, Randi J ^a,b,f   Loesch, Danuta Z ^c   Lachiewicz, Ave ^d   Taylor, Annette K ^e   Hagerman, Paul J ^a  

^a UNIVERSITY OF COLORADO   (United States)

^b CHILDREN S HOSPITAL   (United States)

^c LA TROBE UNIVERSITY   (Australia)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e Kimball Genetics Inc   (United States)

^f UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

Dynamic mutations; Gene silencing; Genetic anticipation; Reverse transcriptase polymerase chain reaction; Transcription

Indexed keywords

MESSENGER RNA;

ALLELE; ARTICLE; FLUORESCENCE; FRAGILE X SYNDROME; GENE LOCUS; GENE SILENCING; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; MALE; METHYLATION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSCRIPTION REGULATION; TRINUCLEOTIDE REPEAT;

ALLELES; DNA METHYLATION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HETEROZYGOTE; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA-BINDING PROTEINS; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION; UP-REGULATION;

EID: 0034684031     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000918)94:3<232::AID-AJMG9>3.0.CO;2-H     Document Type: Article

References (35)

1. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
2. Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect
3. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
4. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
5. Behavioral and psychiatric disorders in adult male carriers of fragile X
6. Quantitative comparison of FMR1 gene expression in normal and premutation alleles
7. Translational suppression by trinucleotide repeat expansion at FMR1
8. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
9. High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
10. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
11. Real time quantitative PCR
12. Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
13. A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the Eag1 site of the FMR1 gene
14. Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization
15. Genotype-phenotype relations in fragile X syndrome: A family study
16. Transmitting males and carrier females in fragile X revisited
17. Evidence that methylation of the FMR1 locus is responsible for variable phenotypic expression of the fragile X syndrome
18. Fragile X syndrome in a normal IQ male with learning and emotional problems
19. Familial transmission of the FMR1 CGG repeat
20. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
21. Absence of expression of the FMR-1 gene in fragile X syndrome
22. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe STB12.3: The first 2,253 cases
23. No mental retardation in a man with 40% abnormal methylation at the FMR1 locus and transmission of sperm cell mutations as premutations
24. Normal phenotype in two brothers with a full FMR1 mutation
25. Prediction of mental status in carriers of the fragile X mutation using CGG repeat length
26. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
27. Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene
28. FMRP expression as a potential prognostic indicator in fragile X syndrome
29. Clinical involvement and protein expression in individuals with the FMR1 premutation
30. Elevated levels of FMR1 messenger RNA in carrier males: A new mechanism of involvement in the fragile X syndrome
31. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
32. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome
33. FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male
34. Unusual mutations in high functioning fragile X males: Apparent instability of expanded unmethylated CGG repeats
35. Fragile X syndrome: Unique genetics of the heritable unstable element