A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

This report adds to the initial patient cohort in which several synonymous variants were also described, further highlighting the contribution of this variant type in CDC45. It also reiterates the true potential pathogenicity of synonymous variants, which is a mutation type that is commonly ignored in variant prioritization strategies.PMID:33639314 | DOI:10.1016/j.ejmg.2021.104182
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research