Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes
Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes
复制标题
新的 MYRF 基因突变：几种临床重叠综合征的可能原因
DOI：
10.1111/cga.12402
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发表时间：
2020
影响因子：
1.3
通讯作者：
Kitanaka Sachiko
中科院分区：
文献类型：
--
作者：
Tanaka Hiroyuki;Isojima Tsuyoshi;Kimura Yuki;Inuzuka Ryo;Kitanaka Sachiko
我们根据美国医学遗传学学会的指南，从I MYRF I基因的致病变异中诊断出这名患者患有CUGS。患者最初被诊断为米查姆综合征，大约十年后被重新诊断为CUGS。髓鞘调节因子(I MYRF I)基因编码少突胶质细胞发育所必需的转录因子。1以往的研究已证实MYRF与体腔上皮源性细胞之间的关系。2最近的完整外显子测序研究表明，心脏-泌尿生殖系统综合征(CUGS)(OMIM#618280)与I MYRF I杂合突变有关。2，3仅有22例CUGS患者I MYRF I基因突变，表型细节尚未阐明。[摘自文章]先天性畸形的版权属于Wiley-Blackwell公司，其内容不得复制、通过电子邮件发送到多个站点或在未经版权所有者明确书面许可的情况下发布到列表服务器。但是，用户可以打印、下载或通过电子邮件发送文章供个人使用。这篇摘要可以删节。对复制品的准确性不作任何保证。用户应参考该材料的原始出版版本，以获取完整摘要。版权适用于所有摘要。
We diagnosed the patient with CUGS from a pathogenic variant of the I MYRF i gene based on the American College of Medical Genetics guidelines. The patient was initially diagnosed with Meacham syndrome and was rediagnosed as having CUGS about a decade after death. The myelin regulatory factor (I MYRF i) gene encodes a transcription factor necessary for oligodendrocyte development. 1 Previous studies have demonstrated the relationship between MYRF and coelomic epithelium-derived cells. 2 Recent whole-exome sequencing studies have showed that cardiac-urogenital syndrome (CUGS)(OMIM# 618280) is associated with heterozygous mutations in I MYRF i. 2, 3 There are only 22 CUGS patients with mutations in the I MYRF i gene, and the phenotypic details are yet to be elucidated.[Extracted from the article]Copyright of Congenital Anomalies is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. Copyright applies to all Abstracts.