Fragile X full mutations are more similar in siblings than in unrelated patients: Further evidence for a familial factor in CGG repeat dynamics

Genetics in Medicine

Volumn 2, Issue 4, 2000, Pages 242-248

  Burman, Robert W ^a   Anoe, Kim S ^a   Popovich, Bradley W ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

CGG; Familial clustering; Fragile X syndrome; Mutation pattern; Repeat length variability

Indexed keywords

DNA;

ARTICLE; CONTROLLED STUDY; FAMILIAL INCIDENCE; FRAGILE X SYNDROME; GENE CLUSTER; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; SIBLING; SOMATIC CELL GENETICS; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

EID: 0034532297     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200007000-00007     Document Type: Article

References (44)

1. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
2. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
3. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
4. Fragile X genotype characterized by an unstable region of DNA
5. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
6. Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island
7. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
8. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
9. DNA methylation represses FMR-1 transcription in fragile X syndrome
10. Absence of expression of the FMR-1 gene in fragile X syndrome
11. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
12. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
13. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
14. Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
15. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
16. Genotype mosaicism in fragile X fetal tissues
17. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
18. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability
19. Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor
20. Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
21. Postmortem examination of two fragile X brothers with an FMR1 full mutation
22. Strong similarities of the FMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation
23. Fragile X syndrome and the (CGG)n mutation: Two families with discordant MZ twins
24. Reverse mutation in fragile X syndrome
25. Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation
26. No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations
27. Familial transmission of the FMR1 CGG repeat
28. Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect
29. Characterization of the full fragile X syndrome mutation in fetal gametes
30. The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: Implications for the origin of mosaicism
31. Simple repeat DNA is not replicated simply
32. Mechanisms of DNA expansion
33. Biological implications of the DNA structures associated with disease-causing triplet repeats
34. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli
35. Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism
36. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene
37. Deletion in the FMR1 gene in a fragile-X male
38. Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation
39. Cloned human FMR1 trinucleotide repeats exhibit a length-and orientation-dependent instability suggestive of in vivo lagging strand secondary structure
40. Isolation of a human DNA sequence which spans the fragile X
41. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat
42. Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent
43. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
44. Mosaicism in fragile X affected males