[Genetic analysis of a child with Congenital insensitivity to pain due to compound heterozygous variants of SCN9A gene].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2024-11-10 DOI:10.3760/cma.j.cn511374-20240119-00055

Xiaolan Tan, Yuan Yang, Yunqiang Liu

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引用次数: 0

Abstract

Objective: To explore the genetic etiology of a child featuring multiple fractures and congenital insensitivity to pain (CIP).

Methods: A child who had presented at the West China Hospital of Sichuan University on March 16, 2023 for recurrent fractures and CIP was selected as the study subject. Peripheral blood samples of the child and his parents was collected. Trio-whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study has been approved by the Medical Ethics Committee of West China Hospital of Sichuan University (No. 2019-772).

Results: Trio-whole exome sequencing revealed that the child has harbored compound heterozygous variants of the SCN9A gene, namely c.560delC (p.P187Rfs*15) and c.829C>T (p.R277*), which were respectively inherited from his father and mother. Homozygous c.829C>T variant had been demonstrated as pathogenic among CIP patients, whilst the c.560delC (p.P187Rfs*15) variant was unreported previously and predicted to be pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (ACMG).

Conclusion: The child was diagnosed with CIP due to the compound heterozygous variants of the SCN9A gene. Above finding has enabled genetic counselling and reproductive guidance for this family.

查看原文本刊更多论文

[一名因 SCN9A 基因复合杂合变异而患有先天性疼痛不敏感的儿童的遗传分析]。

目的方法：选择 2023 年 3 月 16 日因反复骨折和先天性疼痛不敏感（CIP）在四川大学华西医院就诊的一名儿童作为研究对象：方法：选取 2023 年 3 月 16 日因反复骨折和 CIP 到四川大学华西医院就诊的一名儿童作为研究对象。采集患儿及其父母的外周血样本。进行了三重全外显子测序。通过桑格测序和生物信息学分析验证了候选变异。本研究已获得四川大学华西医院医学伦理委员会批准（编号：2019-772）：三重全外显子测序结果显示，患儿携带SCN9A基因复合杂合变异，即c.560delC（p.P187Rfs*15）和c.829C>T（p.R277*），分别遗传自父亲和母亲。同源的c.829C>T变异在CIP患者中已被证明是致病的，而c.560delC (p.P187Rfs*15)变异以前没有报道过，根据美国医学遗传学和基因组学学院（ACMG）的指南，该变异被认为是致病的：结论：该患儿因 SCN9A 基因的复合杂合变异而被诊断为 CIP。上述发现为这个家庭提供了遗传咨询和生育指导。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.