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Article

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014

Weiss Karin, Orr-Urtreger Avi, Kaplan Ber Idit, Naiman Tova, Shomrat Ruth, Bardugu Eyal, Yaron Yuval, Ben-Shachar Shay

Abstract excerpt

PURPOSE: Fragile X syndrome, a common cause of intellectual disability, is usually caused by CGG trinucleotide expansion in the FMR1 gene. CGG repeat size correlates with expansion risk. Premutation alleles (55-200 repeats) may expand to full mutations in female meiosis. Interspersed AGG repeats decrease allele instability and expansion risk. The carrier rate and stability of FMR1 alleles were evaluated in large...

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Source

Identifiers

PMID: 24875300
DOI: 10.1038/gim.2014.64

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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