This website provides information on patients with mutations in the DOCK6 gene, including clinical data, molecular data, management and research options.

Mutations in the DOCK6 gene cause Adams-Oliver syndrome (AOS) 2, an autosomal recessive form of Adams Oliver syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). Variable involvement of the brain, eyes, and the heart have also been reported.

This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the DOCK6 gene.

Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Dr. Ranad Shaheen, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, rshaheen@kfshrc.edu.sa

Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, faltuame@alfaisal.edu