ArticleMolecular syndromology2026
Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence.
Article in Molecular syndromology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Fetal akinesia deformation sequence (FADS), a severe prenatal phenotype associated with congenital myopathies (CMs), is linked to mutations in the Methods: A couple who experienced four consecutive pregnancy losses, including two fetuses affected by FADS, underwent trio-WGS following negative WES findings. Variants were annotated using public databases and filtered according to ACMG guidelines. Functional validation of an intronic variant was conducted using RT-PCR, TA cloning, and Sanger sequencing. Results: WGS identified two novel Conclusion: This study highlights the utility of WGS in diagnosing fetal anomalies with negative WES results by identifying noncoding and structural variants. The identification of novel
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