This website provides information on patients with mutations in the TMEM231 gene, including clinical data, molecular data, management and research options.

Mutations in the TMEM231 gene lead to ciliopathy. If the mutations are homozygous, the clinical presentation is characteristic of Meckel-Gruber syndrome, a severe ciliopathy characterized by occipital encephalocele, polydactyly, polycystic kidney disease, and early death. If the mutations are compound heterozygous, the affected patients present with Joubert syndrome, a disorder characterized by oculomotor apraxia, breathing abnormalities, molar tooth sign on brain MRI, and developmental delay.

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 TMEM231 gene.

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

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