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; María del Carmen Carrascosa Romero; Andrés Martínez Gutiérrez; María Baquero Cano; Blanca Alfaro Ponce; María Jesús Dabad Moreno

doi:10.1055/s-0040-1710540

Journal of Pediatric Genetics, Inhaltsverzeichnis

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

¹Department of Pediatrics, Albacete University Hospital Complex, Spain

,

María del Carmen Carrascosa Romero

¹Department of Pediatrics, Albacete University Hospital Complex, Spain

,

Andrés Martínez Gutiérrez

¹Department of Pediatrics, Albacete University Hospital Complex, Spain

,

María Baquero Cano

¹Department of Pediatrics, Albacete University Hospital Complex, Spain

,

Blanca Alfaro Ponce

¹Department of Pediatrics, Albacete University Hospital Complex, Spain

,

María Jesús Dabad Moreno

¹Department of Pediatrics, Albacete University Hospital Complex, Spain

› Institutsangaben

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

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Referenzen

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