Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

Oostra, Ben A.; Jacky, Peter B.; Brown, W. Ted; Rousseau, François

doi:10.1136/jmg.30.5.410

Cited by 80 publications

(37 citation statements)

References 21 publications

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“…There is a consensus that direct genotypic analysis at the fragile X locus is the method of choice for confirmation of the diagnosis of fragile X in any mentally retarded child or adult suspected of having the disease [74]. Indeed in 1992 at the Third International Fragile X Conference in Aspen (USA) cytogeneticists and molecular geneticists agreed that DNA diagnosis, along with a standard karyotype in order to detect other chromosomal abnormalities, should be performed first in cases associated with mental retardation.…”

Section: Confirmatory Diagnosis Of Thefragile X Syndromementioning

confidence: 99%

The fragile X syndrome: implications of molecular genetics for the clinical syndrome

Rousseau

1994

Eur J Clin Investigation

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Abstract. The fragile X syndrome of mental retardation is one of the most common genetic diseases. Characterization of the mutations involved has greatly improved our knowledge of the transmission of fragile X syndrome and new DNA-based diagnostics tools significantly outperform cytogenetic testing both for establishing the diagnosis and for determining carrier status. Fragile X mutations consist of an expansion of a CGG trinucleotide repeat localized in a gene (FMR-1) that is abnormally methylated in all affected individuals. They are classified as premutations (asymptomatic) and full mutations (associated with the disease). Several different DNA analysis protocols are used for fragile X genotyping but only a few have been tested on large samples of individuals. There are several clinical indications for direct DNA genotyping for fragile X including mental retardation, learning disability or hyperactivity in children with or without a family history of mental retardation, the establishment of carrier diagnosis in fragile X families and prenatal screening of children from carrier women.

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Section: Confirmatory Diagnosis Of Thefragile X Syndromementioning

confidence: 99%

The fragile X syndrome: implications of molecular genetics for the clinical syndrome

Rousseau

1994

Eur J Clin Investigation

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“…Seven jig DNA was digested to completion with £cy;RI and Eagh electrophoresed on a 0.7% agarose gel and transferred to Hybond N + blotting membrane. Probes StB12,3 (5) or pP2, a 1 kb Pstl fragment derived from pE5.1 which identifies the (CGG)n repeat and the preceding CpG island (48), were used after labelling by the random oligonucleotide priming method (49). After overnight hybridization the filters were washed to 0.1XSSC, 0.1% SDS at 65°C prior to exposure to X-ray film.…”

Section: Southern Blot Analysismentioning

confidence: 99%

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

Graaff¹,

Rouillard

Willems

et al. 1995

Human Molecular Genetics

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The fragile X syndrome is the most frequent cause of inherited mental retardation. The molecular mechanism of the disorder is based on the expansion of a CGG repeat in the 5' UTR of the FMR1 gene in the majority of fragile X patients. The instability of this CGG repeat containing region is not restricted to the CGG repeat itself but expands to the flanking region as well. We describe four unrelated fragile X patients that are mosaic for both a full mutation and a small deletion in the CGG repeat containing region. Sequence analysis of the regions surrounding the deletions showed that both the (CGG)n repeat and some flanking sequences were missing in all four patients. The 5' breakpoints of the deletions were found to be located between 75-53 bp proximal to the CGG repeat. This suggests the presence of a hot spot region for deletions in the CGG repeat region of the FMR1 gene and emphasizes the instability of this region in the presence of an expanded CGG repeat.

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“…The clinical symptoms are moderate to pro found mental retardation, macroorchidism and minor dys morphic features, and specific behavioral characteristics (Hagerman 1996). The identification of the mutational mechanism underlying the fragile X syndrome, an expan sion of the CGG repeat within exon 1 of the FMRI gene, has resulted in the development of a reliable diagnostic method by using direct DNA analysis (Oberle et al 1991;Oostra et al 1993;Rousseau et al 1991;Verkerk et al 1991). The CGG repeat is polymorphic in the normal pop ulation and varies from 6-53 repeats, with a mean of 30 repeats .…”

Section: Introductionmentioning

confidence: 99%

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

et al. 1997

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A bstract To date, the identification of patients and earn ers of the fragile X syndrome has been earned out by DNA analysis by means of the polymerase chain reaction and Southern biot analysis. This direct DNA analysis al lows both the size of the CGG repeat and inethylation sta tus of the FMRI gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMRI gene, in lymphocytes from normal individuals and the ab sence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from nor mal individuals and fragile X patients. The diagnostic power of the antibody test is "perfect" for males, whereas the results are less specific for females.

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Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

Cited by 80 publications

References 21 publications

The fragile X syndrome: implications of molecular genetics for the clinical syndrome

The fragile X syndrome: implications of molecular genetics for the clinical syndrome

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

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