Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.

doi:10.3390/genes12111669

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Article

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.

Genes - 22 Oct 2021

Tekendo-Ngongang Cedrik, Grochowsky Angela, Solomon Benjamin D, Yano Sho T

Abstract excerpt

FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogenicity of FMR1 coding, noncoding, and copy number variants published to date. There is a spectrum of disease-causing FMR1 variation, with clinical and functional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34828275
DOI: 10.3390/genes12111669
PMCID: PMC8623550

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