Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.

ABSTRACT: The impact of the FMR1 premutation on human health is the subject of considerable controversy. A fundamental unanswered question is whether carrying the premutation allele is directly correlated with clinical phenotypes. A challenging problem in past genotype-phenotype studies of the FMR1 premutation is ascertainment bias, which could lead to invalid research conclusions and negatively affect clinical practice. Here, we created the first population-based FMR1-informed biobank to find the pattern of health characteristics in premutation carriers. Our extensive phenotyping shows that premutation carriers experience a clinical profile that is significantly different from controls and is evident throughout adulthood. Comprehensive understanding of the clinical risk associa

SUBMITTER: Movaghar A 

PROVIDER: S-EPMC6703870 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature