The aim of the study is to characterize the clinical manifestations of ALMS within the
ciliopathies to prevent complications and determine preventive and therapeutic targets.
The investigators believe that the clinical consequences of mutations in the gene result
ALMS1 unprecedented protests and the ALMS study should help to be informed, not only about
the understanding and decision support other ciliopathies, but also about some common
diseases, as some physiopathogenic roads could be common; the rare disease being exacerbated
a model of the channel concerned. Secondarily, the clinical data generated by this project
will also be used as part of basic research (eg comparison with results in animal models, use
of human cells for in vitro studies or transcriptomic ....) (which will be a secondary
upgrading to this work).