Qian Huitao, Zhou Tao, Zheng Nan, Lu Qiulun, Han Yi
The First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Key Laboratory of Cardiovascular and Cerebrovascular Medicine, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, Nanjing Medical University, Nanjing, China.
Front Genet. 2022 Aug 15;13:846529. doi: 10.3389/fgene.2022.846529. eCollection 2022.
A 36-year-old male with congenital equinovarus deformity was admitted to the hospital due to worsen deformity. He was known to have ear perforation in childhood. After hospitalization, he received equinovarus correction surgery, fourth toe osteotomy, and external fixation for right foot during the procedure. During his hospital stay, the patient has been treated with multiple gastrointestinal perorations, accompanied with multiple organ dysfunction and fragile soft tissues. During his in-hospital stay, multiple organ dysfunctions were observed, including the heart, kidney, liver, and intestines. In order to identify the mutation site, whole-exome sequencing (WES) was performed, and further verified with Sanger sequencing analysis in this patient. One-site mutation located at [c.883_884del, p (Phe295Cysfs5)] was identified in this patient, whereas this mutation was not observed in other 100 healthy controls. Also, this variant has not been reported in public databases (ExAC and gnomAD). Our report showed that unanticipated multiple tissue deformation observed the musculocontractural EDS patient was caused by mutation located at [c.883_884del, p (Phe295Cysfs5)] induced truncated CHST14 protein.
一名36岁先天性马蹄内翻畸形男性因畸形加重入院。他童年时已知有鼓膜穿孔。住院后，术中接受了马蹄内翻矫正手术、右足第四趾截骨术及外固定。住院期间，该患者接受了多次胃肠道穿孔治疗，伴有多器官功能障碍和软组织脆弱。住院期间，观察到多器官功能障碍，包括心脏、肾脏、肝脏和肠道。为了确定突变位点，对该患者进行了全外显子测序（WES），并通过桑格测序分析进一步验证。在该患者中鉴定出一个位于[c.883_884del，p（Phe295Cysfs5）]的位点突变，而在其他100名健康对照中未观察到该突变。此外，该变异在公共数据库（ExAC和gnomAD）中也未被报道。我们的报告显示，肌肉收缩性埃勒斯-当洛综合征（EDS）患者中观察到的意外多组织变形是由位于[c.883_884del，p（Phe295Cysfs5）]的突变诱导的截短型CHST14蛋白所致。
