Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

Am J Med Genet A. 2021 Feb;185(2):539-543. doi: 10.1002/ajmg.a.61960. Epub 2020 Nov 9.

Abstract

Casein kinase 2-related disorders have been linked to pathogenic variants in CSNK2A1 and CSNK2B. CSNK2B-related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phenotype associated with CSNK2B pathogenic variants is yet to be fully explored. Here, we describe a patient with features suggestive of Poirier-Bienvenu neurodevelopmental syndrome, harboring a novel CSNK2B pathogenic variant. We also report that the linear growth abnormalities could be a recurrent presentation in patients with this syndrome and suggest the effect of growth hormone therapy in our patient's stature.

Keywords: CSNK2B; dopamine; intellectual disability; seizures; stature.

Publication types

  • Case Reports

MeSH terms

  • Casein Kinase II / genetics*
  • Child
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Exome Sequencing
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Mutation / genetics
  • Phenotype

Substances

  • CSNK2A1 protein, human
  • Casein Kinase II