Japanese siblings with woodhouse-sakati syndrome: The first family in East Asia

Abstract

Background: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative disorder caused by mutation in the DCAF17 gene and characterized by endocrinopathy, deafness, alopecia, intellectual disability, and extrapyramidal symptoms. Seventy-six patients with WSS were reported mainly from Middle East Asia; however, no patient was found in East Asia.