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J Pediatr Genet 2021; 10(02): 164-172
DOI: 10.1055/s-0040-1710540
Case Report

A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay

Carlos Marcilla Vázquez
1   Department of Pediatrics, Albacete University Hospital Complex, Spain
,
María del Carmen Carrascosa Romero
1   Department of Pediatrics, Albacete University Hospital Complex, Spain
,
Andrés Martínez Gutiérrez
1   Department of Pediatrics, Albacete University Hospital Complex, Spain
,
María Baquero Cano
1   Department of Pediatrics, Albacete University Hospital Complex, Spain
,
Blanca Alfaro Ponce
1   Department of Pediatrics, Albacete University Hospital Complex, Spain
,
María Jesús Dabad Moreno
1   Department of Pediatrics, Albacete University Hospital Complex, Spain
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Abstract

Microcephaly is defined by a head circumference that is at least two standard deviations below the mean for age and sex of the general population in a specific race. Primary microcephaly may occur as an isolated inborn error, which may damage to the central nervous system or as part of the congenital abnormalities associated with genetic syndrome, affecting multiple organ systems. One of the syndromic forms consists of microcephaly, seizures, and developmental delay caused by biallelic mutations in the gene that encode polynucleotide kinase 3′ − phosphatase protein (PNKP). In this article, we reported a newborn male who presented with microcephaly, severe developmental delay, and early-onset refractories seizures, caused by a novel homozygous mutation of the PNKP gene.

Keywords

polynucleotide kinase 3′ − phosphatase - microcephaly - seizure


Publication History

Received: 28 November 2019

Accepted: 12 April 2020

Article published online:
12 May 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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