Ontology highlight
ABSTRACT:
SUBMITTER: Akahira-Azuma M
PROVIDER: S-EPMC5874396 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Human genome variation 20180329
We describe an 8-year-old Japanese boy with a <i>de novo</i> recurrent missense mutation in <i>CSNK2A1</i>, 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 i ...[more]