This website provides information on patients with mutations in the AP1B1 gene, including clinical data, molecular data, management and research options.
Pathogenic variants in the AP1B1 gene lead to autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR; OMIM# 242150), which is characterized by neonatal-onset ichthyosis, erythroderma, and hearing loss with failure to thrive and global developmental delay in childhood and laboratory abnormalities that may include low plasma copper and ceruloplasmin levels.
This website was created to share and collect information about clinical features, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the AP1B1 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
Mohnish Suri, MD, FRCP, Consultant Clinical Geneticist, Nottingham Regional Clinical Genetics Service, Nottingham University Hospitals, City Hospital Campus, Nottingham, UK, firstname.lastname@example.org