This website provides information on patients with mutations in the KIAA1109 gene, including clinical data, molecular data, management and research options.
Mutations in the KIAA1109 gene cause Alkuraya-Kucinskas syndrome, a multisystem disorder characterized by arthrogryposis, cerebral parenchymal underdevelopment, global developmental delay, hypotonia, facial dysmorphism, eye movement abnormalities, and abnormalities affecting other organ systems, such as the heart and kidneys. Most patients die in utero or soon after birth, and the few who survive may additionally suffer from seizures and variable intellectual disability. Not all individuals with a mutation in the KIAA1109 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KIAA1109 gene.
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, firstname.lastname@example.org
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com