奥库尔-钟神经发育综合征的临床特征：病例报告及文献综述
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
作者信息
Jafari Khamirani Hossein, Zoghi Sina, Motealleh Ali, Dianatpour Mehdi, Tabei Seyed Mohammad Bagher, Mohammadi Sanaz, Dastgheib Seyed Alireza
机构信息
Comprehensive Medical Genetics Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
Mol Syndromol. 2022 Dec;13(5):381-388. doi: 10.1159/000522353. Epub 2022 Mar 31.
INTRODUCTION
Autosomal dominant pathogenic variations in the gene cause Okur-Chung neurodevelopmental syndrome (OCNDS).
METHODS
The proband and her parents were examined thoroughly and observed for any issues related to OCNDS. Furthermore, peripheral blood samples were collected from each subject for further investigations. Whole-exome sequencing identified a pathogenic variant in (NM_001895: c.62G>A, p.R21Q; rs1402734448).
RESULTS
The proband has global developmental delay, speech disorders, epilepsy, and behavioral issues. Despite the previously reported cases, she manifested both atonic and myoclonic seizures simultaneously. Lastly, we provide a review of the reported cases with OCNDS.
DISCUSSION
p.R21Q causes OCNDS. Further studies are highly recommended concerning this mutation to validate the results of this study and expand the knowledge regarding and the phenotypic spectrum of OCNDS.
引言
该基因的常染色体显性致病变异导致奥库尔-钟神经发育综合征（OCNDS）。
方法
对先证者及其父母进行了全面检查，并观察是否存在与OCNDS相关的任何问题。此外，从每个受试者采集外周血样本进行进一步研究。全外显子测序在（NM_001895：c.62G>A，p.R21Q；rs1402734448）中鉴定出一个致病变异。
结果
先证者存在全面发育迟缓、言语障碍、癫痫和行为问题。尽管有先前报道的病例，但她同时表现出无张力性发作和肌阵挛性发作。最后，我们对报道的OCNDS病例进行了综述。
讨论
p.R21Q导致OCNDS。强烈建议针对此突变进行进一步研究，以验证本研究结果，并扩展关于OCNDS的基因及表型谱的知识。
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