Andrea Richter

Accredited Professor

Contact Information

Service de génétique médicale
3175, chemin Côte Ste-Catherine
Montréal (Québec)
H3T 1C5


T 514 345-4931, poste 3589
F 514 345-4766


  • Molecular aspects of genetic disease in the Quebec population
  • Native American infant cirrhosis (NAIC)
  • Congenital malformations of the heart

My group studies the molecular aspect of genetic diseases important for the Québec populations. Our current focus is on North American Indian childhood cirrhosis (NAIC) a form of cholestasis frequent in the Ojibway-Cri population of Abitibi. We identified the cirhin gene and the  mutation responsible for the disease. Our studies now focus on animal models and in vitro function assays. The second major interest of the laboratory is congenital cardiac malformations. In a collaborative study with G.Andelfinger (Pediatrics) we used a complete genome scan with SNPs to study more than 40 multiplex families. The aim is to identify candidate genes responsible for left ventricular outflow track obstruction (LVOTO). The genes identified will then be studied with animal models.

The studies in my group are supported by the CIHR.


  • Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard J-P, Mathieu J, Melançon SB., Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A.: ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5 kb ORF. Nature Genetics 24: 120-125 (2000).
  • Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A.: A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis. Am J Hum Genet 71:1443-1449 (2002).
  • Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA.: Population history and its impact on medical genetics in Quebec. Clin Genet. 68(4):287-301 (2005).
  • Yu B, Mitchell GA, Richter A.: Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res. 311: 218-228 (2005)
  • Richter A, Mitchell GA, Rasquin A.: La cirrhose amérindienne infantile. M/S Médecines Science: 23: 1002-1007 (2007)
  • Yang Y, Houle AM, Letendre J, Richter A.: Gly691Ser mutation in Ret is associated with primary vesicoureteral reflux in the French-Canadian population in Quebec. Human Mutation 29: 695-702 (2008)