{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T03:08:13Z","timestamp":1774062493358,"version":"3.50.1"},"reference-count":18,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2032\u2009\u2212\u2009phosphatase 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.<\/jats:p>","DOI":"10.1055\/s-0040-1710540","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T19:01:26Z","timestamp":1589310086000},"page":"164-172","source":"Crossref","is-referenced-by-count":3,"title":["A Novel c.968C\u2009&gt;\u2009T homozygous Mutation in the Polynucleotide Kinase 3\u2032\u2009\u2212\u2009Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay"],"prefix":"10.53391","volume":"10","author":[{"given":"Carlos","family":"Marcilla V\u00e1zquez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Albacete University Hospital Complex, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda del Carmen","family":"Carrascosa Romero","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Albacete University Hospital Complex, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s","family":"Mart\u00ednez Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Albacete University Hospital Complex, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Baquero Cano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Albacete University Hospital Complex, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blanca","family":"Alfaro Ponce","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Albacete University Hospital Complex, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Jes\u00fas","family":"Dabad Moreno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Albacete University Hospital Complex, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"ref1","first-page":"883","volume-title":"The central nervous system, disorders in head size and shape","author":"A R Cohen","year":"2006"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/ajmg.c.31397","article-title":"Congenital microcephaly","volume":"166C","author":"D Alcantara","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"08","key":"ref3","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1002\/ajmg.a.37766","article-title":"Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation","volume":"170","author":"P Nair","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"14","key":"ref4","doi-asserted-by":"crossref","first-page":"6608","DOI":"10.1093\/nar\/gks318","article-title":"Impact of PNKP mutations 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Poulton","year":"2013","journal-title":"Neurogenetics"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.molcel.2005.02.012","article-title":"The molecular architecture of the mammalian DNA repair enzyme, polynucleotide kinase","volume":"17","author":"N K Bernstein","year":"2005","journal-title":"Mol Cell"},{"issue":"19","key":"ref12","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.15252\/embj.201591363","article-title":"Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability","volume":"34","author":"M Shimada","year":"2015","journal-title":"EMBO J"},{"issue":"01","key":"ref13","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s13760-016-0709-z","article-title":"Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy","volume":"117","author":"S Gokben","year":"2017","journal-title":"Acta Neurol Belg"},{"issue":"03","key":"ref14","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.ajhg.2015.01.005","article-title":"Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4","volume":"96","author":"J Bras","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"08","key":"ref15","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/jhg.2014.51","article-title":"Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss","volume":"59","author":"M Nakashima","year":"2014","journal-title":"J Hum Genet"},{"key":"ref16","first-page":"1","article-title":"Compound heterozygous mutations in PNKP gene in an Iranian child with microcephaly, seizures, and developmental delay","author":"F Bitarafan","year":"2019","journal-title":"Fetal Pediatr Pathol"},{"issue":"03","key":"ref17","first-page":"10","article-title":"Ataxia with oculomotor 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Zhurnal Nevrologii i Psikhiatrii Im","volume":"118","author":"G Rudenskaya","year":"2018","journal-title":"S.S. Korsakova."},{"issue":"11","key":"ref18","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1002\/ajmg.a.61339","article-title":"From congenital microcephaly to adult onset cerebellar ataxia: distinct and overlapping phenotypes in patients with PNKP gene mutations","volume":"179","author":"M Gatti","year":"2019","journal-title":"Am J Med Genet A"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1710540.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:48Z","timestamp":1758138348000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1710540"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,12]]},"references-count":18,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2021,5,10]]},"published-print":{"date-parts":[[2021,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1710540","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,12]]}}}