Table 1. Clinical and genetic findings in patients with PUF60 variants.

Abbreviations: AVSD, atrioventricular septal defect; CADD, Combined Annotation Dependent Depletion; CdLS, Cornelia de Lange Syndrome; HBH, haemoglobin H; OFC, occipitofrontal circumference; PDA, patent ductus arteriosus; PFO, patent foramen ovale; VSD, ventricular septal defect.

Table lists presence of phenotypic features in each patient in our cohort, as well as in previously reported patients along with total frequency of each phenotypic feature. Mutation data including genomic location, predicted effect on protein are listed for all patients with CADD score¹⁴ calculations for all missense mutations and where previously reported. (CADD is a framework that integrates multiple existing annotation tools to give one scaled score of deleteriousness for a variant. A CADD score of 20 means that a variant is among the top 1% of deleterious variants in the human genome. A score of 30 means that the variant is in the top 0.1% and so forth.).