Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

Peters anomaly (PA) is a congenital corneal opacity associated with corneo‐lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular conditions identified a de novo splicing and three novel missense heterozygous CDH2 variants affecting the extracellular cadherin domains in four...