AI Article Synopsis
- - Poirier-Bienvenu neurodevelopmental syndrome is caused by mutations in the CSNK2B gene and is characterized by symptoms like early-onset seizures and hypotonia. Craniodigital syndrome is also linked to CSNK2B but is less understood.
- - This report details two cases: a 7-month-old girl with severe hypotonia and epilepsy due to a specific CSNK2B mutation, and a 5-year-old boy with craniodigital syndrome, displaying unique physical features and another mutation.
- - The findings suggest a potential role of the CSNK2B gene in various neurodevelopmental disorders and associated physical characteristics.
Article Abstract
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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728954 | PMC |
| http://dx.doi.org/10.1186/s13256-021-03184-8 | DOI Listing |
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