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Article

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.

Fetal and pediatric pathology - 1 Apr 2021

Bitarafan Fatemeh, Khodaeian Mehrnoosh, Almadani Navid, Kalhor Alireza, Sardehaei Elham Amjadi, Garshasbi Masoud

Abstract excerpt

BACKGROUND: Pathogenic variants within polynucleotide kinase 3'phosphatase (PNKP) gene cause microcephaly, seizures, and developmental delay (MCSZ) and ataxia-oculomotor apraxia type 4 (AOA4) disorders due to unrepaired DNA lesions. METHODS: Whole exome sequencing was performed on a child with microcephaly, seizures, developmental delay, callosal dysgenesis on MRI, intellectual disability, speech disorder,...

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Identifiers

PMID: 31707899
DOI: 10.1080/15513815.2019.1686784

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