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Article

Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.

Pediatric research - 1 Feb 2023

Shahid Rabia, Yasin Muhammad, Rehman Zia Ur, Jadoon Humaira, Tahir Haleema, Meraj Neelam, Khan Niamat, Zubair Maria, Zulfiqar Irba, Nowshid Maha, Azeem Arfa, Jabeen Musarrat, Hameed Abdul, Saleha Shamim

Abstract excerpt

INTRODUCTION: The CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1) gene shows increased instability upon maternal transmission. Maternal FMR1 intermediate (45-54 repeats) and premutation (PM: 55-<200 repeats) alleles usually expand to full mutation (>200 repeats) alleles in offspring and consequently, cause fragile X syndrome (FXS) in them. METHODS: In a prospective...

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

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PMID: 35681093
DOI: 10.1038/s41390-022-02128-2

Genes

FMR1
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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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