PDF(Pubmed)
Abstract：
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 CHST14 [c.883_884del, p (Phe295Cysfs*5)] 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 CHST14 [c.883_884del, p (Phe295Cysfs*5)] induced truncated CHST14 protein.
摘要：
一名患有先天性马蹄畸形的36岁男性因畸形恶化而入院。众所周知，他在童年时期就有耳朵穿孔。住院后,他接受了马术矫正手术,第四脚趾截骨,和手术期间右脚的外部固定。在他住院期间，患者接受了多次胃肠道灌肠治疗，伴有多器官功能障碍和脆弱的软组织。在他住院期间,观察到多器官功能障碍，包括心脏,肾,肝脏,和肠子。为了识别突变位点,进行全外显子组测序（WES），并在该患者中通过Sanger测序分析进一步验证。位于CHST14的一位点突变[c.883_884del，在该患者中发现了p（Phe295Cysfs*5）]，而在其他100名健康对照中未观察到这种突变。此外，该变体尚未在公共数据库(ExAC和gnomAD)中报告.我们的报告显示，观察到的肌肉收缩性EDS患者的意外多重组织变形是由位于CHST14的突变引起的[c.883_884del，p(Phe295Cysfs*5)]诱导截短的CHST14蛋白。
