Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

doi:10.1016/j.ajhg.2023.10.013

Article

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

American journal of human genetics - 7 Dec 2023

Engal Eden, Oja Kaisa Teele, Maroofian Reza, Geminder Ophir, Le Thuy-Linh, Marzin Pauline, Guimier Anne, Mor Evyatar, Zvi Naama, Elefant Naama, Zaki Maha S, Gleeson Joseph G, Muru Kai, Pajusalu Sander, Wojcik Monica H, Pachat Divya, Elmaksoud Marwa Abd, Chan Jeong Won, Lee Hane, Bauer Peter, Zifarelli Giovanni, Houlden Henry, Daana Muhannad, Elpeleg Orly, Amiel Jeanne, Lyonnet Stanislas, Gordon Christopher T, Harel Tamar, Õunap Katrin, Salton Maayan, Mor-Shaked Hagar

Abstract excerpt

Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal complex and has not been previously associated with human pathologies in the Online Mendelian Inheritance in Man (OMIM) database. Through GeneMatcher, we identified ten individuals from eight families with a severe neurodevelopmental...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Intellectual Disability

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Abstract excerpt

Topics

Related research