A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

@article{McEntagart2016ARR,
  title={A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.},
  author={Meriel E. McEntagart and Kathleen A. Williamson and Jacqueline K. Rainger and Ann P. Wheeler and Anne Seawright and Elfride De Baere and Hannah Verdin and L. Therese Bergendahl and Alan James Quigley and Joe Rainger and Abhijit Dixit and Ajoy Dey Sarkar and Eduardo L{\'o}pez Laso and Roc{\'i}o S{\'a}nchez-Carpintero and Jesus Barrio and Pierre Bitoun and Trine E. Prescott and Ruth Riise and Shane McKee and Jackie Cook and Lisa Mckie and Berten Ceulemans and Françoise M. Meire and Isabel Karen Temple and Fabienne Prieur and James Williams and Penny Clouston and Andrea H. Nemeth and Siddharth Banka and Hemant Bengani and Mark T W Handley and Elisabeth Freyer and Allyson Ross and Veronica van Heyningen and Joseph A. Marsh and Frances V. Elmslie and David R. FitzPatrick},
  journal={American journal of human genetics},
  year={2016},
  volume={98 5},
  pages={981-992}
}
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals with GS recruited to the Deciphering Developmental Disorders study. Whole-exome or targeted sequence analysis identified plausible disease-causing ITPR1 mutations in 10/10 additional GS-affected individuals. These ultra-rare protein-altering… CONTINUE READING