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Population-based FMR1 carrier screening among reproductive women.

Journal of assisted reproduction and genetics - 1 Nov 2024

Ain Quratul, Hwang Ye Hyun, Yeung Daryl, Panpaprai Pacharee, Iamurairat Wiwat, Chutimongkonkul Wiboon, Trachoo Objoon, Tassone Flora, Jiraanont Poonnada

Abstract excerpt

PURPOSE: Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55-200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring. METHODS: Carrier screening for FMR1 PM is not available in...

Topics

Humans
Female
Fragile X Mental Retardation Protein
Adult
Fragile X Syndrome
Genetic Carrier Screening
Trinucleotide Repeat Expansion
Heterozygote
Young Adult
Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Thailand

Genetic Testing

Primary Ovarian Insufficiency

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39320553
DOI: 10.1007/s10815-024-03242-2
PMCID: PMC11621265

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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