De novo truncating mutations in WASF1 cause intellectual disability with seizures

Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren… - The American Journal of …, 2018 - cell.com
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. WASF1, also known as WAVE1, is
part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce …

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

FL Raymond - 2018 - repository.cam.ac.uk
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, three de novo truncating mutations were identified in Wiskott-
Aldrich syndrome protein family member 1 (WASF1) in five unrelated individuals with
moderate to profound intellectual disability with autistic features and seizures. WASF1, also
known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac …
以上显示的是最相近的搜索结果。 查看全部搜索结果