Ⅰ型神经纤维瘤病患者1例及其家系NF1基因突变检测  

Detection of NF1 Gene Mutation in a Pedigree with Neurofibromatosis Type 1

作　　者：马盼盼 康启超 陈雪[1] 王兴[1] 田芯瑗 郝胜菊[1] 惠玲 徐福蓉 张钏[1] MA Panpan;KANG Qichao;CHEN Xue;WANG Xing;TIAN Xinyuan;HAO Shengju;HUI Ling;XU Furong;ZHANG Chuan(Gansu Provincial Maternity and Child-Care Hospital,Medical Genetics Center,Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Lanzhou 730050,China)

机构地区：[1]甘肃省妇幼保健院医学遗传中心,甘肃省出生缺陷与罕见病临床研究中心,甘肃兰州730050

出　　处：《中国皮肤性病学杂志》2023年第6期663-667,共5页The Chinese Journal of Dermatovenereology

基　　金：兰州市科技计划项目(2021-1-182);甘肃省科技计划资助项目(22YF7FA094,21JR7RA680)。

摘　　要：目的探索遗传性Ⅰ型神经纤维瘤病新的致病基因变异及表型。方法应用全外显子测序技术对1例Ⅰ型神经纤维瘤病患者进行全外显子检测,发现可疑突变位点后对先证者及其家系应用Sanger测序技术进行验证。结果该Ⅰ型神经纤维瘤病先证者检测到NF1基因c.889-2_889-1insTTTCTG变异,先证者父亲及先证者两个双胞胎儿子均存在NF1基因c.889-2_889-1insTTTCTG位点杂合变异,先证者之妻未见该位点变异。根据美国医学遗传学和基因组学学会(ACMG)指南,该变异评级为致病性变异,为新发变异。结论NF1基因c.889-2_889-1insTTTCTG变异为新发突变,扩充了NF1基因突变致病位点。Objective To explore mutation and clinical phenotypes of NF1 gene in neurofibromatosis type 1(NF1).Methods High-throughput sequencing technology was used to detect this NF1 patient.After confirming the pathogenic genotypes of the proband,Sanger sequencing method was used to verify the results.Results Heterozygous mutations of NF1 gene c.889-2_889-1insTTTCTG was detected in the proband.The father and two twin sons of the proband carried heterozygous c.889-2_889-1insTTTCTG mutation of NF1 gene,while his wife did not carry this mutation.According to American College of Medical Genetics and Genomics,c.889-2_889-1insTTTCTG is a pathogenic variant.This novel mutation has not previously been reported.Conclusion The detection of the novel mutation in NF1 gene expands the spectrum of NF1 gene mutations.

关 键 词：Ⅰ型神经纤维瘤病 NF1基因 全外显子测序 

分 类 号：R739.4[医药卫生—肿瘤]