This website provides information on patients with mutations in the PUS3 gene, including clinical data, molecular data, management and research options.

Mutations in the PUS3 gene cause autosomal recessive mental retardation-55, which is characterized by severe intellectual disability, failure to thrive, global developmental delay, and microcephaly. Other features include coarse facies, Mongolian spots, grey sclerae, and strabismus.

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 PUS3 gene.

Dr. Fowzan Alkuraya, Fowzan S 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 City, country: Riyadh, Saudi Arabia, faltuame@alfaisal.edu