Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)
| Autor: | David E. Godler, Claudine M Kraan, Kishore R. Kumar, Ellenore M Martin, Michael Field, Ying Zhu |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
education.field_of_study Pediatrics medicine.medical_specialty Ataxia Cerebellar ataxia business.industry Genetic counseling Population 030105 genetics & heredity medicine.disease Penetrance FMR1 03 medical and health sciences 030104 developmental biology Genetics medicine Intention tremor medicine.symptom business education Genetics (clinical) Fragile X-associated tremor/ataxia syndrome |
| Zdroj: | Journal of Medical Genetics. 59:706-709 |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2021-107758 |
| Popis: | Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition characterised by cerebellar ataxia and intention tremor, usually found in individuals with FMR1 premutation alleles (PM—CGG expansion of 55–199 repeats). Population studies estimate that between 1 in 250 and 1 in 1600 men have a PM, with up to 45% of these men suggested to develop FXTAS by age 80. We used a Bayesian approach to compare the probability of finding a specific PM genotype in an ataxia population to a population control group and found an estimated penetrance of |
| Databáze: | OpenAIRE |
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