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

CONCLUSION: According to review of previous cases with FMR1 microdeletions, most patients carrying concurrent deletion and full mutation had typical clinical features of FXS. To our knowledge, our case is the first to describe mosaicism of a premutation and microdeletion in the FMR1 gene. The patient was probably protected from the effects of the deletion by mosaicism with premutation allele, leading to milder phenotype. It is thus important to consider appropriate techniques for detecting FMR1 variants other than repeat expansions which cannot be detected by routine FXS diagnosis.PMID:38142803 | DOI:10.1016/j.cca.2023.117728

Source: International Journal of Clinical Chemistry - December 24, 2023 Category: Chemistry Authors: Areerat Hnoonual Oradawan Plong-On Juthamas Worachotekamjorn Chariyawan Charalsawadi Pornprot Limprasert Source Type: research