Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient.
10.3760/cma.j.cn511374-20201225-00912
- VernacularTitle:一例由
SCN9A基因复合杂合变异所致的先天性无痛症
- Author:
Ying BAI
1
;
Yue SUN
;
Jing WU
;
Ning LIU
;
Zhihui JIAO
;
Qianqian LI
;
Kaihui ZHAO
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Channelopathies;
Child;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
NAV1.7 Voltage-Gated Sodium Channel/genetics*;
Pain Insensitivity, Congenital/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(4):392-396
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP).
METHODS: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.
RESULTS: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.
CONCLUSION:The compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child. Above finding has enabled genetic counseling for this family.
