Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome

Moe Akahira-Azuma; Yoshinori Tsurusaki; Yumi Enomoto; Jun Mitsui; Kenji Kurosawa

doi:10.1038/hgv.2018.11

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome

Hum Genome Var. 2018 Mar 29:5:18011. doi: 10.1038/hgv.2018.11. eCollection 2018.

Authors

Moe Akahira-Azuma¹, Yoshinori Tsurusaki², Yumi Enomoto², Jun Mitsui³, Kenji Kurosawa¹

Affiliations

¹ Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
² Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
³ Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Abstract

We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur-Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin-Siris, or Rubinstein-Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors.