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Article

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.

Genes - 3 Mar 2024

Tak YeEun, Schneider Andrea, Santos Ellery, Randol Jamie Leah, Tassone Flora, Hagerman Paul, Hagerman Randi J

Abstract excerpt

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, some have mosaicism in methylation and/or CGG repeat size, and few have completely unmethylated FM alleles. Those with a complete lack of methylation...

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Identifiers

PMID: 38540390
DOI: 10.3390/genes15030331
PMCID: PMC10970065

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