This website provides information on patients with mutations in the GLI2 gene, including clinical data, molecular data, management and research options.

Mutations in GLI2 have been described as associated with a range of phenotypes. The most common features include pituitary anomalies and postaxial polydactyly. Other malformations such as holoprosencephaly (HPE) also occur. Thus, HPE patients with GLI2 mutations have in addition polydactyly, midfacial and/or pituitary abnormalities. A common facial phenotype was seen in individuals with midface hypoplasia, cleft lip/palate and hypotelorism (HPE-like features). Not all individuals with a mutation in the GLI2 gene have these features.

The inheritance pattern was described as autosomal dominant with incomplete penetrance and variable expressivity. The mutation is frequently inherited from an asymptomatic parent. HPE is now listed as an oligogenic disease having multiple inheritance modes. Among them, oligogenism inheritance would require two or more events involving genes from the same or different signalling pathways with functional relationship. This oligogenic inheritance plays a role in the variability of the phenotype especially when there is a functional relationship between mutated genes, as this is the case for HPE genes.

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 GLI2 gene.

Christèle Dubourg, PharmD, PhD, Molecular Genetics and Genomics, CHU Rennes, Rennes, France, christele.dubourg@chu-rennes.fr

Sylvie Odent, MD, PhD, Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Centre Hospitalier Universitaire Rennes, 16 boulevard de Bulgarie, F-35203, Rennes, France, sylvie.odent@chu-rennes.fr

Alinoë Lavillaureix, MD, Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Centre Hospitalier Universitaire Rennes, 16 boulevard de Bulgarie, F-35203, Rennes, France, alinoe.lavillaureix@chu-rennes.fr