Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

  title={Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.},
  author={Sylvie Gerber and Kamil J. Alzayady and Lydie Burglen and Dominique Br{\'e}mond-Gignac and Valentina Marchesin and Olivier Roche and M. P. Vara-Del R{\'i}o and Beno{\^i}t Funalot and Rapha{\"e}l Calmon and Alexandra Durr and Vera L{\'u}cia Gil-da-Silva-Lopes and Maria Fernanda Ribeiro Bittar and C Orssaud and B{\'e}n{\'e}dicte H{\'e}ron and Edward Ayoub and Patrick Berquin and Nadia Bahi-Buisson and Christine Bole and C{\'e}cile Boulard Masson and Arnold Munnich and Matias Simons and Marion Delous and H{\'e}l{\`e}ne J Dollfus and Nathalie Boddaert and Stanislas Lyonnet and Josseline Kaplan and Patrick Calvas and David I. Yule and J. -M. Rozet and Lucas Fares Taie},
  journal={American journal of human genetics},
  volume={98 5},
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 trio-based whole-exome sequencing and Sanger sequencing in five simplex GS-affected… CONTINUE READING