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.

Objective: To search for the underlying genetic defect in a Pakistani family with WSS phenotypes.

Methods: 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.

Conclusions: 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.