Article
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
American journal of human genetics - 5 May 2016
McEntagart Meriel, Williamson Kathleen A, Rainger Jacqueline K, Wheeler Ann, Seawright Anne, De Baere Elfride, Verdin Hannah, Bergendahl L Therese, Quigley Alan, Rainger Joe, Dixit Abhijit, Sarkar Ajoy, López Laso Eduardo, Sanchez-Carpintero Rocio, Barrio Jesus, Bitoun Pierre, Prescott Trine, Riise Ruth, McKee Shane, Cook Jackie, McKie Lisa, Ceulemans Berten, Meire Françoise, Temple I Karen, Prieur Fabienne, Williams Jonathan, Clouston Penny, Németh Andrea H, Banka Siddharth, Bengani Hemant, Handley Mark, Freyer Elisabeth, Ross Allyson, van Heyningen Veronica, Marsh Joseph A, Elmslie Frances, FitzPatrick David R
Abstract excerpt
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...
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