Zhang Yuli, Wang Bin, Li Yexian, Li Yanjia, Zhang Guoqiang
Department of Dermatology, the First Hospital of Hebei Medical University, Shijiazhuang, Hebei 050031, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Nov 10;38(11):1120-1122. doi: 10.3760/cma.j.cn511374-20200730-00567.
To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo.
Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio.
The patient was found to harbor a novel missense c.1885G>A (p.Gly629Arg) variant of the NF1 gene, for which neither parent was carrier. The variant was not recorded in the public database. Based on the guidelines for genetic variation of the American College of Medical Genetics and Genomics, the c.1885G>A missense variant was predicted to be pathogenic (PS1+PS2+PM2+PP3+PP4).
The c.1885G>A missense variant probably underlay the disease in this child. Above finding has enriched the spectrum of the NF1 gene variants.
探究一名临床疑似患有Ⅰ型神经纤维瘤病、斑秃和白癜风患者的遗传基础。
采用芯片捕获和高通量测序检测NF1基因变异。通过对三联体家庭进行桑格测序验证候选变异。
发现该患者携带NF1基因一个新的错义c.1885G>A（p.Gly629Arg）变异，其父母均非携带者。该变异未在公共数据库中记录。根据美国医学遗传学与基因组学学会的遗传变异指南，预测c.1885G>A错义变异具有致病性（PS1+PS2+PM2+PP3+PP4）。
c.1885G>A错义变异可能是该患儿发病的原因。上述发现丰富了NF1基因变异谱。
