OCLN

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

OCLN-related disorder, also known as Band-like Calcification with simplified gyration and polymicrogyria (BLC-PMG) or Pseudo-TORCH Syndrome 1, is caused by biallelic mutations in the OCLNgene. It is a severe neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and developmental arrest, together with a distinctive pattern of band-like brain calcification and polymicrogyria on neuroimaging. Renal dysfunction and other extracranial features may also be observed in some individuals, but do not occur in all patients with a pathogenic mutation in the OCLNgene.

This website was created to share and collect information about clinical characteristics, management, and research projects to gather more knowledge and provide better treatment of patients with a mutation in the OCLNgene.

Professor Maha S. Zaki, MD, PhD, Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt, dr_mahazaki@yahoo.com
Mohamed G. Ayad, MD, MSc, Assistant Lecturer, Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt, drmohamedgmalayad@gmail.com