In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Hall, Deborah A.

doi:10.7916/d8ng4np3

Cited by 12 publications

References 63 publications

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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

et al. 2018

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Background and Objective There is convincing evidence that small CGG expansion (41-54 repeats): FMR1 "gray zone" alleles (GZ) contribute to the risk of parkinsonism in males, but there is insufficient corresponding data in females. This study intends to fill this gap. Methods We screened whole-blood-derived DNA from a cohort of 601 females diagnosed with idiopathic PD, and from dry Guthrie blood spots from a local sample of 1,005 female newborns (population controls), for the size of the FMR1 CGG repeat using a PCR technique. Results We found a significant excess (8.2%) of GZ carriers compared with 5.2% in the control sample, with a P value of 0.009 for the difference in proportions. Conclusion FMR1 gray zone alleles are a significant risk factor for parkinsonism in females. These population data and occasional reports of FXTAS-like or parkinsonian manifestations in carriers suggest possible mechanisms whereby the effects of these alleles synergize with the existing pathologies underpinning parkinsonism. © 2018 International Parkinson and Movement Disorder Society.

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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

et al. 2018

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Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions

et al. 2016

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With widespread adoption of fragile X carrier screening in pregnant women, the number of expectant couples receiving news of an unanticipated Fragile X Mental Retardation 1 (FMR1) gene expansion has increased. The most common abnormal result from maternal FMR1 testing involves an intermediate allele, also known as a gray zone result, which requires genetic counseling but poses minimal risk for an adverse developmental outcome. By contrast, the finding of a maternal FMR1 premutation or full mutation during pregnancy has important implications for the woman herself, her unborn child, and her extended family. These multiple levels of impact, in addition to the complex inheritance pattern and variable expressivity of fragile X-associated disorders, cause significant stress for newly identified expectant couples and pose unique challenges for genetic counselors in the prenatal setting. © 2016 John Wiley & Sons, Ltd.

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Genetics of Dyscalculia 2: In Search of Endophenotypes

Carvalho

Haase

2019

International Handbook of Mathematical Learning Difficulties

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In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Cited by 12 publications

References 63 publications

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions

Genetics of Dyscalculia 2: In Search of Endophenotypes

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