Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation

Koskull, Harriet von; Gahmberg, Nina; Salonen, Riitta; Salo, Armi; Peippo, Maarit

doi:10.1002/ajmg.1320510438

Cited by 10 publications

(3 citation statements)

References 9 publications

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“…Comparison of studies is also complicated because of the differences in the definitions of the target populations. For example, a study that examined clinically referred persons with mental retardation found a higher prevalence for fragile X in the target population 45 compared with a study that examined persons with language delay. 46 Given the clinical phenotype of the syndrome, however, these differences in the prevalence between the target populations are expected.…”

Section: Full Mutation and Males: Caucasian Populations Of Northern Ementioning

confidence: 99%

FMR1 and the fragile X syndrome: Human genome epidemiology review

Crawford

Acuña

Sherman

2001

Genetics in Medicine

574

391

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The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6 -40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (Ͼ200 -230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population.The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is~1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion. Genet Med 2001:3(5):359 -371.

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Section: Full Mutation and Males: Caucasian Populations Of Northern Ementioning

confidence: 99%

FMR1 and the fragile X syndrome: Human genome epidemiology review

Crawford

Acuña

Sherman

2001

Genetics in Medicine

574

391

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“…There are no systematic reports in the literature about how carrier women cope with these possible outcomes of prenatal diagnosis. Murray and colleagues 4 collated information from seven papers 164,246,252,[261][262][263][264] that included outcomes after prenatal diagnosis of a full mutation in 47 female fetuses, and about 60% of these pregnancies were terminated. However, this figure does not take account of women who have decided to continue the pregnancy once they know that they are carrying a girl, and so DNA analysis of the FMR1 gene is not completed.…”

Section: There Should Be An Accurate and Acceptable Methods Of Early Pmentioning

confidence: 99%

An assessment of screening strategies for fragile X syndrome in the UK

Pembrey¹,

Barnicoat²,

Carmichael³

et al. 2001

Health Technol Assess

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Health Technology Assessment is indexed in Index Medicus/MEDLINE and Excerpta Medica/ EMBASE. Copies of the Executive Summaries are available from the NCCHTA website (see opposite). NHS R&D HTA Programme T he NHS R&D Health Technology Assessment (HTA) Programme was set up in 1993 to ensure that high-quality research information on the costs, effectiveness and broader impact of health technologies is produced in the most efficient way for those who use, manage and provide care in the NHS. Initially, six HTA panels (pharmaceuticals, acute sector, primary and community care, diagnostics and imaging, population screening, methodology) helped to set the research priorities for the HTA Programme. However, during the past few years there have been a number of changes in and around NHS R&D, such as the establishment of the National Institute for Clinical Excellence (NICE) and the creation of three new research programmes: Service Delivery and Organisation (SDO); New and Emerging Applications of Technology (NEAT); and the Methodology Programme. This has meant that the HTA panels can now focus more explicitly on health technologies ('health technologies' are broadly defined to include all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long term care) rather than settings of care. Therefore the panel structure has been redefined and replaced by three new panels: Pharmaceuticals; Therapeutic Procedures (including devices and operations); and Diagnostic Technologies and Screening. The HTA Programme will continue to commission both primary and secondary research. The HTA Commissioning Board, supported by the National Coordinating Centre for Health Technology Assessment (NCCHTA), will consider and advise the Programme Director on the best research projects to pursue in order to address the research priorities identified by the three HTA panels. The research reported in this monograph was funded as project number 93/34/04. The views expressed in this publication are those of the authors and not necessarily those of the HTA Programme or the Department of Health. The editors wish to emphasise that funding and publication of this research by the NHS should not be taken as implicit support for the recommendations for policy contained herein. In particular, policy options in the area of screening will be considered by the National Screening Committee. This Committee, chaired by the Chief Medical Officer, will take into account the views expressed here, further available evidence and other relevant considerations. Criteria for inclusion in the HTA monograph series Reports are published in the HTA monograph series if (1) they have resulted from work commissioned for the HTA Programme, and (2) they are of a sufficiently high scientific quality as assessed by the referees and editors. Reviews in Health Technology Assessment are termed 'systematic' when the account of the search, appraisal and synthesis methods (to minimise biases and random errors) would, in theory, permit the replication ...

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“…Prenatal DNA analysis can be routinely carried out using a chorionic villus sample, as well as after amniocentesis (38,97,104,105). The obvious advantage of chorion villi is the early stage of pregnancy.…”

Section: Mechanism and Timing Of Repeat Amplificationmentioning

confidence: 99%