Ge Lili, Zhang Yaodong, Liu Lei, Zheng Xuan, Chen Chongfen, Kong Jinghui
Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):829-832. doi: 10.3760/cma.j.cn511374-20200410-00250.
To detect variants of NF1 gene among thirteen patients with neurofibromatosis type 1.
Genomic DNA was extracted from peripheral blood samples of the patients. High-throughput sequencing was employed to detect potential variants of the NF1 and NF2 genes.
Thirteen pathogenic variants were identified among the patients, which included one NF1 deletion, three missense variants, three nonsense variants and six frameshifting variants. Among these, 10 variants have been associated with neurofibromatosis type 1. c.4180A>T (p.Asn1394Tyr), c.4217dupT (p.Leu1406fs) and c.1753dupT(p.Leu585Phefs3) were unreported previously. Based on the guidelines of the American College of Medical Genetics and Genomics, c.4180A>T (p.Asn1394Tyr) was predicted to be likely pathogenic (PS2+PM1+PM2+PP2), while c.4217dupT (p.Leu1406fs) and c.1753dupT (p.Leu585Phefs3) were predicted to be pathogenic (PVS1+PS2+PM2).
Variants of the NF1 gene probably underlay the disease among these children. Above findings have enriched the the spectrum of NF1 gene variants.
检测13例1型神经纤维瘤病患者的NF1基因变异。
从患者外周血样本中提取基因组DNA。采用高通量测序检测NF1和NF2基因的潜在变异。
在患者中鉴定出13个致病变异，包括1个NF1缺失、3个错义变异、3个无义变异和6个移码变异。其中，10个变异与1型神经纤维瘤病相关。c.4180A>T（p.Asn1394Tyr）、c.4217dupT（p.Leu1406fs）和c.1753dupT（p.Leu585Phefs3）此前未被报道。根据美国医学遗传学与基因组学学会的指南，c.4180A>T（p.Asn1394Tyr）被预测可能致病（PS2+PM1+PM2+PP2），而c.4217dupT（p.Leu1406fs）和c.1753dupT（p.Leu585Phefs3）被预测致病（PVS1+PS2+PM2）。
NF1基因变异可能是这些儿童患病的原因。上述发现丰富了NF1基因变异谱。
