Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene

Background Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern. The syndrome presents prominent clinical features, including alopecia, neuroendocrine defects, neurological findings and progressive hearing loss. The condition results from mutations in the DCAF17 gene. Aims To search for the underlying genetic defect in a Pakistani family with WSS phenotypes. Methodology Whole exome sequencing was used to search for the disease-causing variant. Results Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17. Conclusion This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17.