4.1 Article

Two different presentations of de novo variants of CSNK2B: two case reports

Journal

JOURNAL OF MEDICAL CASE REPORTS
Volume 16, Issue 1, Pages -

Publisher

BMC
DOI: 10.1186/s13256-021-03184-8

Keywords

Epilepsy; Hypotonia; Dysmorphic features; Case report

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This study reports two unrelated cases of children with CSNK2B variants, each presenting with a different disease. Case 1 is a 7-month-old Caucasian female with severe hypotonia and drug-refractory myoclonic epilepsy, harboring a likely pathogenic de novo variant. Case 2 is a 5-year-old Latino male with craniodigital intellectual disability syndrome, carrying a likely pathogenic de novo variant. Both cases had distinct dysmorphic features.
Background Poirier-Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. Objective To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases. Case report Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly. Conclusion This report suggest that the CSNK2B gene may be involved in the physiopathology of neurodevelopmental disorders and variable dysmorphic features.

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