Article
A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability.
Gene - 5 Feb 2021
Zeidler Shimriet, Severijnen Lies Anne, de Boer Helen, van der Toorn Esmay C, Ruivenkamp Claudia A L, Bijlsma Emilia K, Willemsen Rob
Abstract excerpt
Fragile X syndrome (FXS) is the most common monogenetic cause of intellectual disability and autism spectrum disorders. Mostly, FXS is caused by transcriptional silencing of the FMR1 gene due to a repeat expansion in the 5' UTR, and consequently lack of the protein product FMRP. However, in rare cases FXS is caused by other types of variants in the FMR1 gene. We describe a missense variant in the FMR1 gene,...
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