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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):392-396. doi: 10.3760/cma.j.cn511374-20201225-00912.
[Article in 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.

MeSH terms

  • Channelopathies*
  • Child
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation
  • NAV1.7 Voltage-Gated Sodium Channel / genetics
  • Pain Insensitivity, Congenital* / genetics

Substances

  • NAV1.7 Voltage-Gated Sodium Channel
  • SCN9A protein, human

Supplementary concepts

  • Indifference to Pain, Congenital, Autosomal Recessive