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Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth
Author(s) -
Selvam Pavalan,
Jain Angita,
Cheema Anvir,
Atwal Herjot,
Forghani Irman,
Atwal Paldeep S
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61960
Subject(s) - phenotype , short stature , disease , intellectual disability , linear growth , genetics , medicine , psychology , biology , gene , mathematics
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.