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Heterogeneity of clinical features and mutation analysis of NTRKI in Han Chinese patients with congenital insensitivity to pain with anhidrosis

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单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Anesthesiol, 1095 Jie Fang Rd, Wuhan 430030, Hubei, Peoples R China [2]Wuhan Gen Hosp Guangzhou Mil, Dept Anesthesiol, Wuhan, Hubei, Peoples R China [3]Third Mil Med Univ, Xinqiao Hosp, Dept Anesthesiol, Chongqing, Peoples R China [4]Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Hubei, Peoples R China
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关键词: congenital insensitivity to pain with anhidrosis HASN IV phenotype NTRK1 mutation Chinese

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Purpose: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder whose core clinical features consist of no response to noxious stimuli and inability to sweat under any conditions. Our goal was to characterize the details of phenotypic and genotypic features in Chinese CIPA patients. Patients and methods: Personal data and clinical information were investigated by interview and physical examination. DNA was extracted from blood samples of patients and their available familial members and subjected to genetic analysis. Results: A total of 41 Han Chinese CIPA patients from 35 unrelated families were recruited. The distribution of patients was mainly in the central and southern regions of China, with a male to female ratio of 3:1 and a mortality rate of 7.3%. Heterogeneity of clinical features, including pain insensitivity, temperature sensation, and complications, were cataloged. Interestingly, some patients had "visceral pain" sensation, and there was a significant difference in temperature perception and thermal pain between individuals. The incidence of bone and joint fractures was 49%. The characteristics of 19 mutations of NTRKI in 41 patients, with five novel mutations, were identified. More than 63% of patients had the splice mutation, c.851-33 T>A, which strongly suggests that it may be a common pathogenic site in Han Chinese patients. Conclusion: Current findings expand our knowledge about the spectrum of phenotypic features and the racial characteristics of NTRKI mutations of CIPA patients in the Han Chinese population.

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出版当年[2018]版:
大类 | 3 区 医学
小类 | 3 区 临床神经病学
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 临床神经病学
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出版当年[2017]版:
Q3 CLINICAL NEUROLOGY
最新[2023]版:
Q2 CLINICAL NEUROLOGY

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第一作者单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Anesthesiol, 1095 Jie Fang Rd, Wuhan 430030, Hubei, Peoples R China
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