K Shah1,2, A Jan2,3, F Ahmad2,4, S Basit5, K Ramzan6, W Ahmad2. 1. Department of Biotechnology, COMSATS University Islamabad, Abbottabad, Pakistan. 2. Department of Biochemistry, Faculty of Biological Sciences, Qauid-i-Azam University, Islamabad, Pakistan. 3. Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology [KUST], Kohat, Pakistan. 4. Department of Chemistry, Women University, Swabi, Pakistan. 5. Center for Genetics and Inherited Diseases, Taibah University, Medina, Kingdom of Saudi Arabia. 6. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Abstract
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. AIMS: To search for the underlying genetic defect in a Pakistani family with WSS phenotypes. METHODOLOGY: 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. CONCLUSION: 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.
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. AIMS: To search for the underlying genetic defect in a Pakistani family with WSS phenotypes. METHODOLOGY: 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. CONCLUSION: 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.