De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

doi:10.1002/ajmg.a.61505

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Article

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A - 1 May 2020

Chilton Ilana, Okur Volkan, Vitiello Giuseppina, Selicorni Angelo, Mariani Milena, Goldenberg Alice, Husson Thomas, Campion Dominique, Lichtenbelt Klaske D, van Gassen Koen, Steinraths Michelle, Rice Jennifer, Roeder Elizabeth R, Littlejohn Rebecca O, Srour Myriam, Sebire Guillaume, Accogli Andrea, Héron Delphine, Heide Solveig, Nava Caroline, Depienne Christel, Larson Austin, Niyazov Dmitriy, Azage Meron, Hoganson George, Burton Jennifer, Rush Eric T, Jenkins Janda L, Saunders Carol J, Thiffault Isabelle, Alaimo Joseph T, Fleischer Julie, Groepper Daniel, Gripp Karen W, Chung Wendy K

Abstract excerpt

CDC42BPB encodes MRCKβ (myotonic dystrophy-related Cdc42-binding kinase beta), a serine/threonine protein kinase, and a downstream effector of CDC42, which has recently been associated with Takenouchi-Kosaki syndrome, an autosomal dominant neurodevelopmental disorder. We identified 12 heterozygous predicted deleterious variants in CDC42BPB (9 missense, 2 frameshift, and 1 nonsense) in 14 unrelated individuals...

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PMID: 32031333
DOI: 10.1002/ajmg.a.61505

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