Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].

Ying Bai, Yue Sun, Jing Wu, Ning Liu, Zhihui Jiao, Qianqian Li, Kaihui Zhao, Xiangdong Kong

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Apr 10

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To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP). Targeted capture and next generation sequencing (NGS) was carried out for the proband. Suspected pathogenic variants were confirmed by Sanger sequencing of the proband and his parents. The proband was found to harbor compound heterozygous variants of SCN9A gene, namely c.1598delA (p.N533Ifs*31) and c.295_296delCGinsAT (p.R99I), which were respectively inherited from his father and mother. Both variants were predicted to be pathogenic, and neither was reported previously. The compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child. Above finding has enabled genetic counseling for this family.

Citation

Ying Bai, Yue Sun, Jing Wu, Ning Liu, Zhihui Jiao, Qianqian Li, Kaihui Zhao, Xiangdong Kong. Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022 Apr 10;39(4):392-396