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Article

Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder.

Genes - 25 Jul 2023

Chubick Alex, Wang Evan, Au Cora, Grody Wayne W, Ophoff Roel A

Abstract excerpt

Expansion of a CGG repeat in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome is the cause of Fragile X Syndrome (FXS). The repeat length of unaffected individuals varies between 5-40 repeats, whereas >200 repeats are observed in cases of FXS. The intermediate range between 55-200 repeats is considered the premutation range and is observed in roughly 1:300 females and 1:900 males in the...

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PMID: 37628570
DOI: 10.3390/genes14081518
PMCID: PMC10454383

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