Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2

被引：5

作者：

Zhang, Qiao ^{[1
]}

Qian, Xia ^{[1
]}

Zhou, Jianli ^{[1
]}

Han, Lin ^{[2
]}

Zhou, Shaoming ^{[1
]}

Wang, Zhaoxia ^{[1
]}

机构：

[1] Shenzhen Childrens Hosp, Div Gastroenterol, Shenzhen, Peoples R China

[2] Running Gene Inc, Beijing, Peoples R China

来源：

FRONTIERS IN GENETICS | 2021年 / 12卷

关键词：

trichohepatoenteric syndrome (THES) 2; SKIV2L gene; intractable diarrhea; whole-exome sequencing (WES); pediatrics; HEPATO-ENTERIC SYNDROME; CLASS-III REGION; MEDICAL GENETICS; WHOLE GENOME; FACTOR B; MUTATION; DIARRHEA; IDENTIFICATION; CHILDREN;

D O I：

10.3389/fgene.2021.756451

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Trichohepatoenteric syndrome (THES) is a rare disease that mainly causes intractable diarrhea. It is classified into THES1 and THES2, which are associated with the tetratricopeptide repeat domain 37 (TTC37) gene and Ski2-like RNA helicase (SKIV2L) gene, respectively. THES is not very prevalent in China or worldwide, but new cases have increasingly been reported. Methods and Results: Here, we report the clinical and genetic information of a 1.5-month-old girl who was admitted to our hospital due to diarrhea and failure to thrive. Whole-exome sequencing (WES) revealed novel compound-heterozygous variants of the SKIV2L gene, c.3602_3609delAGCGCCTG (p.Q1201Rfs*2), and c.1990A > G (p.T664A) as the causative factors, which were confirmed via Sanger sequencing. Upon continuous feeding with an amino-acid formula through a gastric tube and parenteral nutrition, the patient resumed thriving and her stool frequency decreased. Conclusion: We report a girl carrying novel variants of the SKIV2L gene that cause THES2, thereby providing valuable information on the diagnosis of THES2 and expanding the spectrum of disease-causing SKIV2L mutations.

引用

页数：8

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