A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Tibor Kalmár; Katalin Szakszon; Zoltán Maróti; Alíz Zimmermann; Adrienn Máté; Melinda Zombor; Csaba Bereczki; László Sztriha

doi:10.1055/s-0040-1712916

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2021; 10(02): 159-163
DOI: 10.1055/s-0040-1712916

Case Report

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Tibor Kalmár‡^*

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

,

Katalin Szakszon‡^*

²Department of Pediatrics, University of Debrecen, Debrecen, Hungary

,

Zoltán Maróti

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

,

Alíz Zimmermann

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

,

Adrienn Máté

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

,

Melinda Zombor

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

,

Csaba Bereczki

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

,

László Sztriha

¹Department of Pediatrics, University of Szeged, Szeged, Hungary

› Author Affiliations

Abstract

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.

Keywords

microlissencephaly - pontocerebellar hypoplasia - WDR81 mutation

Full Text

References

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