Article
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
American journal of human genetics - 5 Jul 2018
Ito Yoko, Carss Keren J, Duarte Sofia T, Hartley Taila, Keren Boris, Kurian Manju A, Marey Isabelle, Charles Perinne, Mendonça Carla, Nava Caroline, Pfundt Rolph, Sanchis-Juan Alba, van Bokhoven Hans, van Essen Anthony, van Ravenswaaij-Arts Conny, Boycott Kym M, Kernohan Kristin D, Dyack Sarah, Raymond F Lucy
Abstract excerpt
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.