A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

摘要

Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in iPVRL4 /icoding for nectin-4. Five different mutations in the iPVRL4/i gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247CT, p.His83Tyr) in a consanguineous Turkish family.