Study on application of next-generation sequencing technology in diagnosis of cardio-facio-cutaneous syndrome / 重庆医学

ABSTRACT

Objective To explore the role of next-generation sequencing(NGS)technology in the assisted diagnosis of RA-Sopathies.Methods Peripheral blood was extracted from 1 child patient with suspected Noonan syndrome and her parents,and the gene mutations were detected by adopting the aCGH and NGS.The results were verified by Sanger sequencing.Results The NGS results revealed that the heterozygous mutation of c.1406G>A existed in BRAF gene,and the results of Sanger sequencing in this child case was consistent with the NGS results.The Sanger sequencing results in her parents showed the locus was G/G wild type. Conclusion This child case was diagnosed as CFC.NGS plays a good auxiliary role in the differentiation diagnosis of RASopathies.