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《Journal of Molecular Diagnostics and Therapy》 2016-03
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NF1 mutation detection and pedigree analysis in a patient with neurofibromatosis type 1

GUO Dandan;LU Xinxin;HUANG Xiaoli;CHEN Xijun;ZHANG Biao;ZHENG Jiaying;WU Yanan;Provincial Clinical Medical College,Fujian Medical University;Department of Clinical Laboratory,Fujian Provincial Hospital;  
Objective To identify the genetic ecology in a patient with neurofibromatosis type 1(NF1). Methods The genomic DNA was extracted from peripheral blood of the proband and his family members. All coding exons and the flanking sequences of neurofibromin 1(NF1)from the proband were screened by targeted next-generation sequencing(TNGS),the suspected mutation was validated by Sanger sequencing. Finally,the same mutation site was detected in his family members by Sanger sequencing.Results A known pathogenic mutation c.6790_6791ins A(p.Tyr2264Ter)was identified in the exon 45 of NF1 in the proband,his father and sister had similar clinical manifestations,but his mother and wife were asymptomatic. The same mutation was also detected in his 4- year- old son. Conclusion The mutation ofc.6790_6791ins A(p.Tyr2264Ter)is closely related to the pathogenesis of the NF1 family.
【CateGory Index】: R596.1;R440
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