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

Pavalan Selvam, Angita Jain, Anvir Cheema, Herjot Atwal, Irman Forghani, Paldeep S. Atwal

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)539-543
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number2
DOIs
StatePublished - Feb 2021

Keywords

  • CSNK2B
  • dopamine
  • intellectual disability
  • seizures
  • stature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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