Gene/phenotype/disorder under study
NAV2, MIM: 607026
Abstract
NAV2 (MIM: 607026) encodes Neuron Navigator 2, a cytoskeletal-associated protein involved in neuronal migration, neurite outgrowth, and axon guidance. It is highly expressed in the developing brain, but its role in human disease remains unclear. To date, only one individual with biallelic NAV2 variants has been reported, presenting with cerebellar malformations and a congenital heart defect, but it has not yet been associated with a human syndrome.
We are currently establishing a new international cohort and are seeking collaborators with cases of individuals harboring pathogenic or likely pathogenic NAV2 variants, in order to describe the phenotypic spectrum and to contribute to elucidating the pathomechanism of NAV2 dysfunction.
Coordinating clinicians
Dr. N. Vanden Eynde – nathalie.vandeneynde@lns.etat.lu
Dr. Guillaume Jouret – guillaume.jouret@lns.etat.lu
Institution
National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No