A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.

Abstract excerpt

BACKGROUND: Weyers acrofacial dysostosis (WAD) is a rare autosomal dominant ciliopathy caused by heterozygous pathogenic variants in the EVC2 gene. The classic phenotype includes short stature, dental anomalies, and nail dysplasia. To date, all reported causative variants are truncating mutations located within the last exon (exon 22). In contrast, pathogenic variants in other regions, particularly splice-site...

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• Child, Preschool
• Dysostoses
• Exome Sequencing
• Exons
• Intellectual Disability