Wu Xun,Song Jie,Tang Mi.Application of targeted next-generation sequencing for syndromic congenital heart defects with novel mutations in CHARGE syndrome[J].Journal of Clinical Pediatric Surgery,,21():850-854.[doi:10.3760/cma.j.cn101785-202206003-010]
Application of targeted next-generation sequencing for syndromic congenital heart defects with novel mutations in CHARGE syndrome
- Abstract:
- Objective To analyze the clinical and genetic characteristics of three children with CHARGE syndrome (PMID:10590394) caused by CHD7 (OMIM# 214800) gene mutation, and to explore the application of targeted sequencing in the study of CHARGE syndrome.Methods Genetic diagnostics were performed using a targeted next-generation sequencing panel of 445 candidate genes.New mutations were confirmed by Sanger sequencing.Three CHARGE syndrome patients were further examined with a brief review of literature.Results Through targeted sequencing and screening based on next-generation sequencing platform, new CHD7 variants were found in all three patients:c.G4516A (p.G1506S), c.A5408G (p.Y1803C) and c.C4894T (p.R1632C).Through SIFT, PolyPhen 2, MutationTaster bioinformatics analysis, at least two of the analysis software identified the pathogenic mutation, indicating that the possibility of pathogenic mutation was high.Combined with the clinical manifestations of the three children, including developmental delay, intellectual disability, language disorder, mental disorder, special facial features, skeletal limb changes, heart disease and other clinical manifestations, the clinical manifestations of CHARGE syndrome were highly consistent with those reported previously, and the diagnosis of CHARGE syndrome could be made.Conclusion Targeted next-generation sequencing enables a rapid and accurate genetic diagnosis in syndromic congenital heart disease.
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Memo
收稿日期:2022-05-23。
基金项目:湖南省自然科学基金（2022JJ30840， 2020JJ5831）
通讯作者:唐幂,E-mail:tangmi1129@163.com