Mutations in the DLL1 gene cause an autosomal recessive vertebral malformation disorder.

This website provides information on patients with mutations in the DLL1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the DLL1 gene is a vertebral malformation characterized by multiple vertebral body anomalies involving the thoracic spine, fused T4–T5 on the right side, and bifid T6 and T8 and fused T11–T12 on the left side. In addition, mild dextrocurve convexity involving the thoracolumbar spine was observed. The Cobb angle from the superior endplate of T12 to the inferior endplate of L1 was 21. There were fused ribs at the level of the right third and fourth ribs.

Not all individuals with a mutation in the DLL1 gene have these features. Heterozygous variants in DLL1 gene is responsible for autosomal dominant neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures.

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 DLL1 gene.

Majid Alfadhel, MD, Genetics and Precision Medicine Department (GPM), Medical Genomic Research Lab, King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia, dralfadhelm@gmail.com

Muhammad Umair, PhD, Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia, umairmu@ngha.med.sa