Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome
复制标题
靶向二代测序鉴定毛肝肠综合征患者 SKIV2L 基因的新型错义突变
DOI：
10.3892/mmr.2016.5503
复制
发表时间：
2016-09-01
影响因子：
3.4
通讯作者：
Liu, Zhifeng
中科院分区：
文献类型：
--
作者：
Zheng, Bixia;Pan, Jian;Liu, Zhifeng
毛发肝肠综合征（THES）是一种罕见的常染色体遗传性疾病。已确定三肽重复结构域37（TTC37）基因和超级杀伤杀病毒活性2样（SKIV2L）基因的突变导致THES。本研究报告了一例中国男孩，临床表现为宫内发育迟缓，顽固性腹泻，面部畸形，异常头皮毛干，免疫功能紊乱和肝脏受累。靶向下一代测序和桑格DNA测序显示SKIV 2L基因的复合杂合突变。本研究是第一次，据我们所知，报告一例男孩与THES造成的复合杂合突变的SKIV2L基因在中国。靶序列捕获结合高通量下一代测序技术已被证明是罕见遗传性疾病分子遗传评估的有效方法。
Trichohepatoenteric syndrome (THES) is a rare autosomal, recessively inherited disorder. Mutations in the tetratricopeptide repeat domain 37 (TTC37) gene and the superkiller viralicidic activity 2-like (SKIV2L) gene have been identified to cause THES. The present study reported a case of a Chinese boy, who presented clinically with intrauterine growth retardation, intractable diarrhea, facial dysmorphism, abnormal scalp hair shafts, immune disorders and liver involvement. Targeted next-generation sequencing and Sanger DNA sequencing showed compound heterozygous mutations of the SKIV2L gene. The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. Target sequence capture combined with high-throughput next-generation sequencing technologies have shown to be effective methods for the molecular genetic assessment of rare inherited disorders.