Tag: Joubert

Discovery of a gene that causes Joubert Syndrome in the population of the Lower St. Lawrence region of Quebec

Posted on | by Julie
Jacques Michaud
May 10, 2012 – C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals. The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the Centre of Excellence in Neuromics of Université de Montréal’s (CENUM). Continue reading →