Clinical features
Autosomal recessive mutations in the DCAF17 gene cause Woodhouse-Sakati syndrome, which is characterized by hypogonadism, alopecia, deafness, diabetes mellitus, intellectual disability, and progressive extrapyramidal defects.
Prevalence
An important Arab founder mutation (DCAF17:NM_001164821:exon4:c.436delC:p.L146fs) has a minor allele frequency of 0.001 and an expected carrier frequency of 0.002. Given the average inbreeding coefficient of the Saudi population, which is 0.0241, the expected disease burden can be estimated to be 2.41 per 100,000.
Inheritance
DCAF17-related disorders are inherited in an autosomal recessive manner.