Neurology Genetics · 2018 · 16 citations · 28 references
Life SciencesGeneticsMolecular GeneticsGene ExpressionHuman GeneticsMedical GeneticsGenetic DisordersGenetic SyndromesNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersVariant InterpretationClinical SymptomsControlsLogistic RegressionReceiver Operating Characteristic AnalysisSplice Variant CorrelationSplicing Defect AnalysisSplicing Variant AnalysisX-linked Neurodevelopmental Disorders
OBJECTIVE: CGG repeat size with manifestation, and severity of clinical symptoms of fragile X-associated tremor/ataxia syndrome (FXTAS). METHODS: messenger RNA were quantified and compared using analysis of variance. Least absolute shrinkage and selection operator (LASSO) logistic regression and receiver operating characteristic analyses were performed. RESULTS: -TV2 level (in women) were strongly associated with FXTAS compared with NC and PMC (combined). CONCLUSIONS: and loss of AGG interruptions in both men and women with FXTAS. Future studies will be needed to determine whether these variables can provide useful diagnostic or predictive information.
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Absence of expression of the FMR-1 gene in fragile X syndrome
Maura Pieretti, Ying‐Hui Fu, Stephen T. Warren et al. · Cell · 1991 · 1.5K citations