The fragile X mutation

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 1, Issue 4, 1995, Pages 251-262

  Imbert, Georges ^a   Mandel, Jean‐Louis ^a  

^a CNRS   (France)

Author keywords

FMR1; fragile X syndrome; trinucleotide repeat; unstable mutation

Indexed keywords

EID: 84989730042     PISSN: 10804013     EISSN: 10982779     Source Type: Journal    
DOI: 10.1002/mrdd.1410010405     Document Type: Article

References (129)

1. FRAXE expansion is not a common etiological factor among developmentally delayed males
2. Data on the CGG repeat at the fragile X site in the non‐retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
3. FMR1 protein: Conserved RNP family domains and selective RNA binding
4. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
5. Trinucleotide repeat expansions and human genetic disease
6. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
7. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
8. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: Structure and biological implications
9. Robust amplification of the fragile X syndrome CGG repeat using Pfu polymerase: Ethidium bromide detection of normal and premutation alleles
10. A point mutation in the FMR‐1 gene associated with fragile X mental retardation
11. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
12. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
13. The FMR‐1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
14. Fmr1 knowckout mice: a model to study fragile X mental retardation
15. Study of individuals possibly affected with the fragile X syndrome in a large Swedish family in the 18th to 20th centuries [letter]
16. Length of uninterrupted CGG repeats determines instability in the FMR1 gene
17. Translational suppression by trinucleotide repeat expansion at FMR1
18. The fragile X premutation in carriers and its effect on mutation size in offspring
19. The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure
20. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
21. Trinucleotide repeats that expand in human disease form hairpin structures in vitro
22. Fragile X syndrome without CCG amplification has an FMR1 deletion nature
23. q 28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE
24. A de novo deletion in FMR1 in a patient with developmental delay
25. The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes
26. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data
27. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene
28. Association of fragile X syndrome with delayed replication of the FMR1 gene
29. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
30. Isolation of sequences that span the fragile X and identification of a fragiles X‐related CpG island
31. Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant to full mutation
32. Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy
33. Precursor arrays for triplet repeat expansion at the fragile X locus
34. Two new cases of FMR1 deletion associated with mental impairment
35. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
36. Origin of the expansion mutation in myotonic dystrophy
37. Population studies of the fragile X: A molecular approach
38. Association of a chromosome deletion syndrome with a fragile site within the proto‐oncogene CBL2
39. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication
40. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
41. Triplet repeat expansion at the FRAXE locus and X‐linked mild mental handicap
42. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence (pCCG)n
43. Fragile X syndrome and the (CGG)n mutation: Two families with discordant MZ twins
44. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
45. Triad‐DNA: A model for trinucleotide repeats
46. Two progenitor cells for human oogonia inferred from pedigree data and the X‐inactivation imprinting model of the fragile X syndrome
47. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
48. DNA methylation of the fragile X locus in somatic and germ cells during fetal development: Relevance to the fragile X syndrome and X inactivation somat
49. Controlling the X chromosome
50. Gametic but not somatic instability of CAG repeat length in Huntington's disease
51. Frequent small amplifications in the FMR‐1 gene in fra(X) families: Limits to the diagnosis of “premutations”
52. Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation
53. Methylation and mutation patterns in the fragile X syndrome
54. Strong founder effect for the fragile X syndrome in Sweden
55. Trinucleotide diseases on the rise
56. Evidence that methylation of the FMR‐I locus is responsible for variable phenotypic expression of the fragile X syndrome
57. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
58. Affected sibs with fragile X syndrome exhibit an age‐dependent decrease in the size of the fragile X full mutation
59. FRAXAC2 instability (letter)
60. Population genetics of the fragile‐X syndrome: Multiallelic model for the FMR1 locus
61. Fragile X syndrome is less common than previously estimated
62. FRAXE and mental retardation
63. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
64. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis
65. Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus
66. Mosaicism in fragile X affected males
67. Instability of a 550‐base pair DNA segment and abnormal methylation in fragile X syndrome
68. Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
69. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes
70. Striking founder effect for the fragile X syndrome in Finland
71. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
72. Absence of expression of the FMR1 gene in fragile X syndrome
73. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
74. Frequency and stability of the fragile X premutation
75. Neurodevelopmental effects of the FMR‐1 full mutation in humans
76. The full mutation in the FMR‐1 gene of male fragile X patients is absent in their sperm
77. Evidence of founder chromosomes in fragile X syndrome
78. Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
79. Haplotype analysis at the FRAXA locus in the Japanese population
80. Simple repeat DNA is not replicated simply
81. FRAXAC2 instability [letter]
82. The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
83. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
84. Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
85. On some technical aspects of direct DNA diagnosis of the fragile X syndrome
86. High throughput and economical mutation detection and RFLP analysis using a mini‐method for DNA preparation from whole blood and acrylamide gel electrophoresis
87. No mental retardation in a man with 40% abnormal methylation at the FMR‐1 locus and transmission of sperm cell mutations as premutations
88. A multicenter study on genotype‐phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases
89. Prevalence of carriers of premutation‐size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome
90. The marker (X) syndrome: A cytogenetic and genetic analysis
91. Further segregation analysis of the fragile X syndrome with special reference to transmitting males
92. Epidemiology
93. The protein product of the fragile X gene, FMR1, has characteristics of an RNA‐binding protein
94. Hypermethylation of telomere‐like foldbacks at codon 12 of the human c‐Ha‐ras gene and the trinucleotide repeat of the FMR‐1 gene of fragile X
95. The fragile X syndrome: No evidence for any recent mutations
96. Analysis of a CGG sequence at the FMR‐1 locus in fragile X families and in the general population
97. Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
98. DNA methylation represses FMR‐1 transcription in fragile X syndrome
99. Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence (comments)
100. Simple tandem DNA repeats and human genetic disease
101. An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
102. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome (comments)
103. Somatic and gonodal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
104. DNA replication analysis of FMR1, XIST, and factor 8C loci by FISH shows nontranscribed X‐linked genes replicate late
105. Prevalence of Fre(X) in the County of Funen in Denmark is lower than expected
106. Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region
107. Preventive screening for the fragile X syndrome
108. Population screening for fragile X
109. Diagnosis of fragile X syndrome by direct mutation analysis
110. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR‐1 gene
111. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
112. Identification of a gene (FMR‐1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
113. Apparent regression of the CGG repeat in FMR1 to an allele of normal size
114. Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome
115. A rapid, non‐radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci
116. The frequency of the fragile X chromosome among schoolchildren in Coventry
117. Prevalence of fragile X syndrome (letter, comments)
118. Defined ordered sequence DNA, DNA structure, and DNA‐directed mutation
119. Segregation of the fragile X mutation from an affected male to his normal daughter
120. Rapid antibody test for fragile X syndrome
121. A microdeletion of less than 250 kb, including the proximal part of the FMR‐1 gene and the fragile‐X site, in a male with the clinical phenotype of fragile‐X syndrome
122. Mitotic stability of fragile X mutations in differentiated cells indicates early post‐conceptional trinucleotide repeat expansion (comments)
123. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl‐directed DNA mismatch repair in triplet repeat stability
124. Expansion of unstable DNA region in Japanese myotonic dystrophy patients
125. Fragile X genotype characterized by an unstable region of DNA
126. Fragile‐X syndrome: Unique genetics of the heritable unstable element
127. A complex mutable polymorphism located within the fragile X gene
128. Distribution of FMR‐1 and associated microsatellite alleles in a normal Chinese population