一个先天性无痛无汗症家系的NTRK1基因致病突变分析  

Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis

作　　者：李冰肖[1] 张占会[1] 吴瑕[1] 陈文超[1] 陈建伶 吕倩 柳国胜[1] Li Bingxiao Zhang Zhanhui Wu Xia Chen Wenchao Chen Jianling Lyu Qian Liu Guosheng(Department of Pediatrics, The First Affiliated Hospital, Clinical Medicine Research Institute, J inan University, Guangzhou, Guangdong 510630, China)

机构地区：[1]暨南大学附属第一医院儿科、临床医学研究院,广州510630

出　　处：《中华医学遗传学杂志》2017年第5期646-649,共4页Chinese Journal of Medical Genetics

基　　金：广东省自然科学基金（2016A030313099）

摘　　要：目的对一个先天性无痛无汗症（congenital insensitivity to pain with anhidrosis，CIPA）家系进行NTRK1基因的突变分析。方法采集先证者及其家庭成员的外周血各2mL，用PCR扩增其NTRK1基因的全部17个外显子及其侧翼的内含子区域，对扩增产物进行Sanger测序分析。对包含缺失突变的片段进行T-A克隆测序。结果先证者的NTRK1基因携带一个C．1786C〉T（P．Arg596＊）无义突变（源自母亲）和一个缺失突变C．1928—2028＋23del（源自父亲）。先证者的哥哥仅携带缺失突变。结论通过无痛、无汗以及精神发育迟滞等典型症状结合NTRK1基因测序明确了CIPA的诊断，所发现的C．1928—2028＋23del新突变丰富了NTRKj基因的突变谱。Objective To screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis （CIPA）. Methods Genomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation. Results NTRK1 gene analysis revealed that proband has carried a c. 1786C^T （p. Arg596 ~ ） nonsense mutation inherited from her mother and a novel deletional mutation c. 1928_2028 ＋ 23del from her father. Her elder brother only carried the deletional mutation. Conclusion The diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.

关 键 词：先天性无痛无汗症 NTRK1基因 基因分析 新突变 

分 类 号：R725.9[医药卫生—儿科]