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Article

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.

Journal of medical genetics - 1 May 2014

Pretto Dalyir I, Mendoza-Morales Guadalupe, Lo Joyce, Cao Ru, Hadd Andrew, Latham Gary J, Durbin-Johnson Blythe, Hagerman Randi, Tassone Flora

Abstract excerpt

BACKGROUND: Greater than 200 CGG repeats in the 5'UTR of the FMR1 gene lead to epigenetic silencing and lack of the FMR1 protein, causing fragile X Syndrome. Individual carriers of a premutation (PM) allele with 55-200 CGG repeats are typically unmethylated and can present with clinical features defined as FMR1-associated conditions. METHODS: Blood samples from 17 male PM carriers were assessed clinically and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24591415
DOI: 10.1136/jmedgenet-2013-102021
PMCID: PMC4010431

Genes

FMR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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