Article
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
American journal of human genetics - 5 Jan 2017
Harms Frederike Leonie, Girisha Katta M, Hardigan Andrew A, Kortüm Fanny, Shukla Anju, Alawi Malik, Dalal Ashwin, Brady Lauren, Tarnopolsky Mark, Bird Lynne M, Ceulemans Sophia, Bebin Martina, Bowling Kevin M, Hiatt Susan M, Lose Edward J, Primiano Michelle, Chung Wendy K, Juusola Jane, Akdemir Zeynep C, Bainbridge Matthew, Charng Wu-Lin, Drummond-Borg Margaret, Eldomery Mohammad K, El-Hattab Ayman W, Saleh Mohammed A M, Bézieau Stéphane, Cogné Benjamin, Isidor Bertrand, Küry Sébastien, Lupski James R, Myers Richard M, Cooper Gregory M, Kutsche Kerstin
Abstract excerpt
From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.