一种与小脑发育不全、胼胝体发育不全和脑桥小脑发育不全相关的新型纯合移码WDR81突变。
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
作者信息
Kalmár Tibor, Szakszon Katalin, Maróti Zoltán, Zimmermann Alíz, Máté Adrienn, Zombor Melinda, Bereczki Csaba, Sztriha László
机构信息
Department of Pediatrics, University of Szeged, Szeged, Hungary.
Department of Pediatrics, University of Debrecen, Debrecen, Hungary.
出版信息
J Pediatr Genet. 2021 Jun;10(2):159-163. doi: 10.1055/s-0040-1712916. Epub 2020 May 28.
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.
微脑回畸形是一种以小头畸形和极度简化的脑回模式为特征的脑畸形。它可能与胼胝体发育不全和脑桥小脑发育不全有关。在本病例报告中，我们描述了一对患有这种复杂脑畸形且无任何发育迹象的姐弟。在女孩中，对代表4813个基因的一组基因进行外显子组测序，发现WDR81基因第7外显子存在纯合AG缺失，导致移码突变（c.4668_4669delAG，p.Gly1557AspfsTer16）。父母为该突变的杂合子。男孩未进行适当的基因检测就去世了。我们的研究结果扩展了WDR81基因突变的表型和基因型谱。
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