Abstract: To explore the clinical features and genetic variants of a patient with tricho-hepato-enteric syndrome（THES） admitted to the Department of Gastroenterology in the Chidren’s Hospital of Nanjing Medical University on Jan.24， 2021. Genomic DNA was extracted from the peripheral blood of the child and his parents.Genetic variants were detected by next-generation sequencing.Candidate variants were verified by Sanger sequencing followed by bioinformatic analysis. The child presents with clinical symptoms of liver damage，diarrhea，woolly and brittle hair and growth retardation.The microscopic hair examination showed trichorrhexis nodosa. Novel compound heterozygous SKIV2L gene variants（c.29C>T/c.321C>G）were detected in the child. The two variants have not been reported before，the sites are conserative， and many kinds of bioinformatics predict them as harmful. It is concluded that compound heterozygous variants（c.29C>T/c.321C>G）of SKIV2L gene is the etiology of the patient.The two novel variants expand the spectrum of SKIV2L gene variant and provid the basis for genetic counseling of the family.

Key words: tricho-hepato-enteric syndrome, SKIV2L gene, next-generation sequencing

摘要： 分析2021-01-24南京医科大学附属儿童医院消化科1例发-肝-肠综合征（tricho-hepato-enteric syndrome，THES）患儿临床特征及基因变异情况，采集患儿及其父母外周血提取基因组DNA，使用二代测序对患儿进行基因检测，对检出的可疑变异进行一代Sanger验证及生物信息学分析。患儿临床特征为肝功能损害、腹泻、头发蓬松易断、生长迟缓。头发光镜下见脆性结节。基因测序提示患儿SKIV2L基因存在复合杂合新变异c.29C>T（p.P10L）和c.321C>G（p.H107Q）。两种变异既往均未见报道，位点较为保守，多种生物信息学预测为有害。由此得到SKIV2L基因复合杂合变异c.29C>T/c.321C>G为患者的致病原因的结论。新变异位点的检出丰富了SKIV2L基因的变异谱，为该家系的遗传咨询提供了依据。

关键词: 发-肝-肠综合征, SKIV2L基因, 二代测序