Neurological involvement in Woodhouse-Sakati syndrome

Takeaway

  • Woodhouse-Sakati syndrome (WSS), an autosomal recessive genetic disease due to mutation in the DCAF17 gene, has a more severe and a less severe disease type that has high inter- and intra-familial variability.

Why this matters

    The phenotypic variability of WSS between and within families suggests that there are additional genetic and/or environmental factors that contribute to disease severity beyond DCAF17 mutation.