两例Verheij综合征的临床与遗传学特征
Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.
作者信息
Kursat Yade Dilay, Sezginer Guler Hazal, Zhuri Drenushe, Gurkan Hakan, Yalcintepe Sinem
机构信息
Faculty of Medicine, Trakya University, Edirne, Turkey.
Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
出版信息
Mol Syndromol. 2025 Mar 25:1-8. doi: 10.1159/000545448.
INTRODUCTION
Verheij syndrome is associated with a deletion on chromosome 8q24.3 region or gene mutations. A variety of symptoms including feeding problems, microcephaly, joint laxity, intellectual disability, cardiac defects, and renal abnormalities are the characteristic features of the syndrome.
CASE PRESENTATION
In the current report, 2 cases are presented with Verheij syndrome in different ages. With this study, we aimed to present the clinical findings of a likely pathogenic novel variant in the first case NM_078480.3():c.297+1G>C, and in the second case a likely pathogenic heterozygous missense variant NM_078480.3():c.47G>T p.(G16V).
CONCLUSION
A very rare syndrome - Verheij syndrome - is reported in 2 cases with genotype phenotype correlation in this report.
引言
韦赫伊综合征与8号染色体q24.3区域的缺失或基因突变有关。喂养问题、小头畸形、关节松弛、智力残疾、心脏缺陷和肾脏异常等多种症状是该综合征的特征。
病例报告
在本报告中，介绍了2例不同年龄的韦赫伊综合征病例。通过本研究，我们旨在展示第一例中一个可能致病的新变异NM_078480.3():c.297+1G>C的临床发现，以及第二例中一个可能致病的杂合错义变异NM_078480.3():c.47G>T p.(G16V)的临床发现。
结论
本报告报道了2例韦赫伊综合征病例，并对其基因型与表型的相关性进行了分析，该综合征非常罕见。
Zotero 插件