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Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

26 Mar 2019

Abstract excerpt

Objective To address the relationship between novel mutations in polynucleotide 59-kinase 39-phosphatase (PNKP), DNA strand break repair, and neurologic disease. Methods We have employed whole-exome sequencing, Sanger sequencing, and molecular/cellular biology. Results We describe here a patient with microcephaly with early onset seizures (MCSZ) from the Indian sub-continent harboring 2 novel mutations in PNKP,...

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PMID: 31041400
DOI: 10.1212/nxg.0000000000000320

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