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.
国家科技期刊平台
NSTL
维普
万方数据
