一种新的纯合移码WDR81突变与小缺脑症、胼胝体发育不全和桥小脑发育不全有关。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-05-28 DOI:10.1055/s-0040-1712916

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

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引用次数: 1

摘要

小无脑畸形是一种以小头畸形和极其简化的脑回模式为特征的脑部畸形。它可能与胼胝体发育不全和桥小脑发育不全有关。在这个病例报告中，我们描述了两个兄弟姐妹，一个男孩和一个女孩，患有这种复杂的大脑畸形，缺乏任何发育。在该女孩中，对代表4813个基因的基因组进行外显子测序，发现WDR81基因外显子7纯合AG缺失，导致移码(c.4668_4669delAG, p.Gly1557AspfsTer16)。父母对这种突变是杂合的。这个男孩没有经过适当的基因检测就死了。我们的发现扩大了WDR81基因突变的表型和基因型谱。

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

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.

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.