Microcephaly, seizures and developmental delay caused by two novel mutations in the PNKP gene: a case report
Min Liu1, Dan-Ping Huang1, Man-Li Wang1
1Neurology Department of Children's Hospital of Soochow University, Suzhou, China.
Translational Pediatrics
|April 15, 2026
Summary
Microcephaly, seizures, and developmental delay (MCSZ) is a rare neurodevelopmental disorder. Genetic testing of the PNKP gene identified novel mutations, expanding the mutation spectrum and aiding diagnosis.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Biochemistry
Background:
- Microcephaly, seizures, and developmental delay (MCSZ) is an uncommon autosomal recessive neurodevelopmental disorder.
- It is linked to mutations in the bifunctional enzyme polynucleotide-kinase-3'-phosphatase (PNKP).
- Early diagnosis and management are critical to prevent severe complications.
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