一名患有Okur-Chung神经发育综合征的土耳其患者，其基因存在一种新的从头变异。
A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the Gene in a Turkish Patient.
作者信息
Zhuri Drenushe, Dusenkalkan Fulya, Tunca Alparslan Guzin, Gurkan Hakan
机构信息
Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.
Department of Genetics and Bioengineering, Trakya University Faculty of Engineering, Edirne, Turkey.
出版信息
Mol Syndromol. 2024 Feb;15(1):43-50. doi: 10.1159/000530585. Epub 2023 May 26.
INTRODUCTION
Okur-Chung neurodevelopmental syndrome (OCNDS; #617062) has been associated with heterozygous mutations in the gene (*115440) mapped on the chromosome's 20p13 region.
CASE PRESENTATION
The analysis was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM_177559.3 ():c.1139_1140dupGG (p.Met381GlyfsTer32) variant in the gene from a whole-exome sequence analysis.
CONCLUSION
The variant that we detected has not been reported in open-access databases to date, so it was evaluated as a novel likely pathogenic variant according to the ACMG-2015 criteria. No variant was detected upon segregation analysis of the patient's parents; therefore, the related variant was evaluated as de novo. In this study, we offer the first report of a pathogenic frameshift variant in the gene that has a relationship with OCNDS.
引言
奥库尔-钟神经发育综合征（OCNDS；#617062）与位于染色体20p13区域的基因（*115440）中的杂合突变有关。
病例报告
对一名2岁患者进行了分析，该患者因肌张力减退被家人送至我们的遗传疾病评估中心。通过全外显子组序列分析，我们在该基因中检测到一个杂合的NM_177559.3（）：c.1139_1140dupGG（p.Met381GlyfsTer32）变异。
结论
我们检测到的变异迄今尚未在开放获取数据库中报道，因此根据美国医学遗传学与基因组学学会（ACMG）2015年标准，将其评估为一种新的可能致病变异。对患者父母进行分离分析时未检测到变异；因此，相关变异被评估为新发变异。在本研究中，我们首次报告了与OCNDS相关的该基因中的一个致病移码变异。
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