{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T19:40:20Z","timestamp":1781811620477,"version":"3.54.5"},"reference-count":20,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","funder":[{"name":"National Research, Development and Innovation Office","award":["GINOP-2.3.2-15-2"],"award-info":[{"award-number":["GINOP-2.3.2-15-2"]}]}],"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>Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation and lack of any development. In the girl, exome sequencing of a gene set representing 4,813 genes revealed a homozygous AG deletion in exon 7 of the WDR81 gene, leading to a frameshift (c.4668_4669delAG, p.Gly1557AspfsTer16). The parents were heterozygous for this mutation. The boy died without proper genetic testing. Our findings expand the phenotypic and genotypic spectrum of WDR81 gene mutations.<\/jats:p>","DOI":"10.1055\/s-0040-1712916","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T19:02:55Z","timestamp":1590692575000},"page":"159-163","source":"Crossref","is-referenced-by-count":7,"title":["A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia"],"prefix":"10.53391","volume":"10","author":[{"given":"Tibor","family":"Kalm\u00e1r","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Szakszon","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Debrecen, Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Mar\u00f3ti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Al\u00edz","family":"Zimmermann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienn","family":"M\u00e1t\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melinda","family":"Zombor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Csaba","family":"Bereczki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8698-6514","authenticated-orcid":false,"given":"L\u00e1szl\u00f3","family":"Sztriha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1055\/s-2007-973545","article-title":"Microlissencephaly: a heterogeneous malformation of cortical development","volume":"29","author":"A J Barkovich","year":"1998","journal-title":"Neuropediatrics"},{"issue":"05","key":"ref2","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]","volume":"88","author":"F S Alkuraya","year":"2011","journal-title":"Am J Hum Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/2051-5960-2-69","article-title":"Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly","volume":"2","author":"C Fallet-Bianco","year":"2014","journal-title":"Acta Neuropathol Commun"},{"issue":"06","key":"ref4","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1016\/j.neuron.2014.12.017","article-title":"Katanin p80 regulates human cortical development by limiting centriole and cilia number","volume":"84","author":"W F Hu","year":"2014","journal-title":"Neuron"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ajhg.2016.07.003","article-title":"Mutations in citron kinase cause recessive microlissencephaly with multinucleated neurons","volume":"99","author":"B N Harding","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"08","key":"ref6","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ejmg.2015.06.006","article-title":"Rare ACTG1 variants in fetal microlissencephaly","volume":"58","author":"K Poirier","year":"2015","journal-title":"Eur J Med Genet"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"2597","DOI":"10.1093\/brain\/awx218","article-title":"WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells","volume":"140","author":"M Cavallin","year":"2017","journal-title":"Brain"},{"key":"ref8","first-page":"796","article-title":"An extremely severe phenotype attributed to WDR81 nonsense mutations. 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