Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive 
genetic condition characterized by alopecia, hypogonadism, hearing impairment, 
diabetes mellitus, learning disabilities and extrapydamidal manifestations. 
Sequence variants in the gene DCAF17, encoding nucleolar substrate receptor, 
were identified as the underlying cause of inherited WSS. Considerable 
phenotypic heterogeneity exists in WSS with regard to severity, organs 
involvement and age of onset, both in inter-familial and intra-familial cases. 
In this study, the genetic characterization of a consanguineous pedigree showing 
mild features of WSS was performed, followed by structural analysis of truncated 
protein. Exome sequencing identified a novel single base deletion variant 
(c.270delA; K90Nfs8*) in third exon of the gene DCAF17 (RefSeq; NM_025000), 
resulting in a truncated protein. Structural analysis of truncated DCAF17 
revealed absence of amino acid residues crucial for interaction with DDB1. Taken 
together, the data confirmed the single base pair deletion as the underlying 
cause of this second report of WSS from Pakistan. This signifies the vital yet 
unexplored role of DCAF17 both in development and maintenance of adult tissues 
homeostasis.