Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly

Researchers identified novel biallelic mutations in the RIPK4 gene in a family with two siblings exhibiting symptoms of ectodermal dysplasia, including hair defects with alopecia, nail dysplasia, cutaneous syndactyly, and palmoplantar hyperkeratosis. These mutations were not previously reported and were found through Whole Exome Sequencing after negative results for known nectinopathies genes (PVRL1 and PVRL4). RIPK4, a serine/threonine kinase, is crucial for epidermal differentiation and is implicated in disorders like Bartsocas-Papas and CHAND syndromes. The study suggested a functional link between RIPK4-mediated phosphorylation and cell adhesion molecules, expanding the understanding of RIPK4's role in epidermal development and ectodermal dysplasias pathogenesis.