TFE3

This website provides information on patients with mutations in the TFE3gene, including clinical data, molecular data, management, and research options. The TFE3-associated neurodevelopmental disorder syndrome is an X-linked disorder with lysosomal pathogenicity and storage-like features.

The syndrome caused by mutations in the TFE3gene is a multisystem disorder characterized by the triad of abnormal linear skin pigmentation, intellectual disability, and lysosomal storage-like features, mainly coarse facial features. This rare genetic condition has only been reported in 19 individuals.

Not all individuals with a mutation in the TFE3gene have these features.

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 TFE3gene.

Eyby Leon, MD, George Washington University, Children’s National Hospital, Washington, DC, United States, eleon@cnmc.org
Daphne Lehalle, MD, PhD, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France, daphne.lehalle@aphp.fr