Study on application of next-generation sequencing technology in diagnosis of cardio-facio-cutaneous syndrome

VernacularTitle:二代测序技术在Cardio-facio-cutaneous综合征诊断中的应用研究
Author: Hai XIAO ¹ ; Zhaojing ZHANG ; Xue LV ; Tao LI ; Qiannan GUO ; Qiaofang HOU ; Hongdan WANG ; Hongyan LIU ; Xiaodong HUO ; Shixiu LIAO
Author Information

1. 河南省人民医院医学遗传研究所
Keywords: next-generation sequencing; gene mutation; cardio-facio-cutaneous syndrome; Sanger sequencing
From: Chongqing Medicine 2018;47(8):1074-1076
CountryChina
Language:Chinese
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.