1.Congenital analgesia: a case report and literature review.
Hong-Xia SHEN ; Jian-Feng ZHOU ; Jian-Nong CHAI
Chinese Journal of Contemporary Pediatrics 2009;11(3):197-198
Female
;
Humans
;
Infant
;
Mutation
;
Pain Insensitivity, Congenital
;
complications
;
genetics
;
pathology
;
Receptor, trkA
;
genetics
2.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
Chinese Journal of Medical Genetics 2022;39(4):392-396
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.
Channelopathies
;
Child
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Mutation
;
NAV1.7 Voltage-Gated Sodium Channel/genetics*
;
Pain Insensitivity, Congenital/genetics*