Article
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
American journal of human genetics - 5 May 2016
Gerber Sylvie, Alzayady Kamil J, Burglen Lydie, Brémond-Gignac Dominique, Marchesin Valentina, Roche Olivier, Rio Marlène, Funalot Benoit, Calmon Raphaël, Durr Alexandra, Gil-da-Silva-Lopes Vera Lucia, Ribeiro Bittar Maria Fernanda, Orssaud Christophe, Héron Bénédicte, Ayoub Edward, Berquin Patrick, Bahi-Buisson Nadia, Bole Christine, Masson Cécile, Munnich Arnold, Simons Matias, Delous Marion, Dollfus Helene, Boddaert Nathalie, Lyonnet Stanislas, Kaplan Josseline, Calvas Patrick, Yule David I, Rozet Jean-Michel, Fares Taie Lucas
Abstract excerpt
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there has been no significant association with PAX6 mutations in individuals with GS and the mode of inheritance of the disease had long been regarded as uncertain. Using a combination of...
Topics
- Adolescent
- Aniridia
- Cerebellar Ataxia
- Child
- Child, Preschool
- Female
- Genes, Dominant
- Genes, Recessive