3例Ⅰ型神经纤维瘤病NF1基因突变分析OA

Objective To detect the gene mutations in three children with neurofibromatosis type1(NF1),and explore the new pathogenic mutations and phenotypes of NF1.Methods Ex-ome sequencing and targeted gene panels were performed in the probands to determine the muta-tion sites.After detecting suspected mutation types in the patients,the mutation sites were verified in all patients and their parents by high-throughput sequencing and Sanger sequencing techniques.Results After birth,all three children(two males and one female)presented with multiple cafe-au-lait spots,axillary or inguinal freckles,and one with neurofibromas.All three patients were di-agnosed with NF1,and were with a identified mutation site in the NF1 gene,i.e.,c.3921 delT,c.5206-2A＞C and c.893T＞G,respectively.The c.3921 delT and c.893T＞G have not been re-ported previously.The NF1 variation in one patient was inherited from the father,and the other two were spontaneous mutation.Conclusion We identify two novel mutations in NF1 gene in three children with NF1,expanding the pathogenic mutation sites of the NF1 gene.