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Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2023

Hou Fei, Mao Aiping, Shan Shan, Li Yan, Meng Wanli, Zhan Jiahan, Nie Wenying, Jin Hua

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) arises from the FMR1 CGG expansion. Comprehensive genetic testing for FMR1 CGG expansions, AGG interruptions, and microdeletions is essential to provide genetic counseling for females carrying premutation alleles. However, conventional PCR-based FMR1 assays mainly focus on CGG repeats, and could detect AGG interruption only in males. METHODS: The clinical utility of a...

Topics

Humans
Male
Female
Fragile X Syndrome
Trinucleotide Repeat Expansion
Fragile X Mental Retardation Protein
Genetic Testing
Mutation
Alleles
Trinucleotide Repeats

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38375623
DOI: 10.1016/j.cca.2023.117614

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