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

Article Genetics & Heredity

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability

Ikuko Ohashi et al.

Summary: This case involves a patient with a 6p21.33 deletion affecting the CSNK2B gene, presenting with various developmental delays and dysmorphic facial features. The patient's birth weight was below normal, but there were no apparent familial genetic issues.

CLINICAL DYSMORPHOLOGY (2021)

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Article Clinical Neurology

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Michelle E. Ernst et al.

Summary: CSNK2B has been identified as a disease gene for neurodevelopmental disability (NDD) and epilepsy. This study presented 25 new patients with CSNK2B variants, showing a wide spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. The findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.

EPILEPSIA (2021)

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Article Genetics & Heredity

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

Pavalan Selvam et al.

Summary: This study describes a patient with a novel CSNK2B pathogenic variant, showing features suggestive of Poirier-Bienvenu neurodevelopmental syndrome. Linear growth abnormalities may be a common presentation in patients with this syndrome, and growth hormone therapy could have a positive effect on the patient's stature.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Biochemistry & Molecular Biology