Fam172a est un nouveau gène candidat pour l'étude du syndrome CHARGE et des désordres développementaux sexuels


Catherine Bélanger

Université du Québec à Montréal [UQAM]


Domaine : santé différentielle des sexes

Programme Formation de doctorat

Concours 2018-2019

Partenaire :

Fondation des Étoiles

CHARGE syndrome is a rare genetic disorder (1:10 000) characterized by a co-occurrence of multiple
anomalies including Coloboma, Heart problems, Atresia of the choanae, Retarded growth and development,
Genital anomalies and Ear abnormalities, giving the name of "CHARGE". During their first years of life,
affected children will be subjected to many surgical interventions and will have to work with many specialists on a daily basis. Such surgeries represent several risks due to the young age of the patients and their unstable health state. In order to improve the offered treatments and quality of life for these children, diagnostic methods and new treatment tools have to be developed based on the specific genetic cause of the syndrome. Currently, many researchers are studying CHARGE syndrome based on a mutation in the CHD7 gene, which is known to be involved in 70% of the cases.

In marked contrast, very few are working on other possible genetic causes, as it is the case in my project. Indeed, I am working with a mouse model that presents many of the CHARGE symptoms and has the particularity to bear a mutation in a uncharacterized gene named Fam172a. Interestingly, one of our collaborators has already found the first human CHARGE family with a mutation in our gene of interest. During my project, I will characterize the role of this novel CHARGE syndrome-associated gene. We expect this work will allow developing new treatment strategies and diagnostic tools, which will in turn allow improving the caring of CHARGE syndrome patients and their families.