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Article

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2024

Hnoonual Areerat, Plong-On Oradawan, Worachotekamjorn Juthamas, Charalsawadi Chariyawan, Limprasert Pornprot

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) is mainly caused by FMR1 CGG repeat expansions. Other types of mutations, particularly deletions, are also responsible for FXS phenotypes, however these mutations are often missed by routine clinical testing. MATERIALS AND METHODS: Molecular diagnosis in cases of suspected FXS was a combination of PCR and Southern blot. Measurement of the FMRP protein level was useful for...

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38142803
DOI: 10.1016/j.cca.2023.117728

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