Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development
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精神运动发育迟缓的东亚儿童中的新型 RNASET2 致病变异
DOI：
10.1080/15513815.2017.1388456
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发表时间：
2018-01
影响因子：
1.1
通讯作者：
Guimei Li
中科院分区：
文献类型：
--
作者：
Yan Sun;Xuyun Hu;Jiqing Song;Yanyan Hu;Caihong Liu;Guimei Li
摘要前言：RNASET2基因突变在无巨脑畸形和Aicardi-Goutieres综合征的囊性白质脑病患者中已有报道。这两种疾病都是孟德尔式的先天性巨细胞病毒感染，具有重叠的特征，包括白质脑病、白质改变、颅内钙化、精神运动发育延迟、智能残疾和癫痫。此前只有8个RNASET2突变家系被报道。方法：进行外显子全序列测定，采用阅读深度策略描述拷贝数变异。结果：我们发现了一个新的无义突变体c.128G>；A(p.w43*)和一个包含RNASET2的430kb 6q27微缺失。我们的患者没有表现出前颞叶皮质下囊肿、听力损失、肌张力障碍或神经外特征。结论：我们的结果提供了中国患者RNASET2突变的进一步的遗传和表型信息，并强调了医生在诊断先天性脑感染样表型患者时考虑RNASET2相关疾病的重要性。
ABSTRACT Introduction: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. Methods: Whole exome sequencing was performed and copy number variants were described by read-depth strategy. Results: We identified a novel nonsense variant c.128G>A (p. W43*) and a 430 Kb 6q27 microdeletion encompassing RNASET2. Our patient did not show anterior temporal lobe subcortical cysts, hearing loss, dystonia or extra-neurological features. Conclusion: Our results provided further genetic and phenotypic information of RNASET2 mutation in Chinese patients and highlighted the importance for physicians to consider RNASET2-related disorders when diagnosing patients with congenital brain infection-like phenotypes.
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DOI：
10.1038/gim.2014.148
发表时间：
2015-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
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影响因子：
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10.18632/oncoscience.295
发表时间：
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影响因子：
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影响因子：
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影响因子：
6.7
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Fazzi, E.