Fig. 1.

Strategy of ES data analysis, databases, and tools used for variant interpretation in a research environment and the global results of this study. First, we filtered on the suspected mode of inheritance. Then, a large research, including literature and public databases associated with in silico scores, helping at the interpretation or indicates a possible link with the disease, allowed to select candidate genes. Finally, accordingly with the parental segregation, the variant can be shared in international platforms for the purpose of the identification of additional affected cases to confirm or rule out the candidate gene