Clinical Genetics
Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient
Bai Ying, Sun Yue, Wu Jing, Liu Ning, Jiao Zhihui, Li Qianqian, Zhao Kaihui, Kong Xiangdong
Published 2022-04-10
Cite as Chin J Med Genet, 2022, 39(4): 392-396. DOI: 10.3760/cma.j.cn511374-20201225-00912
Abstract
ObjectiveTo explore the genetic basis for a child featuring congenital insensitivity to pain (CIP).
MethodsTargeted 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.
ResultsThe 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.
ConclusionThe compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child. Above finding has enabled genetic counseling for this family.
Key words:
Congenital insensitivity to pain; SCN9A gene; Next-generation sequencing; Gene mutation
Contributor Information
Bai Ying
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Sun Yue
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wu Jing
Department of Pediatric Internal Medicine, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Liu Ning
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Jiao Zhihui
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Li Qianqian
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Zhao Kaihui
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Xiangdong
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
