Bai Ying, Sun Yue, Wu Jing, Liu Ning, Jiao Zhihui, Li Qianqian, Zhao Kaihui, Kong Xiangdong
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):392-396. doi: 10.3760/cma.j.cn511374-20201225-00912.
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.
探讨一名患有先天性无痛觉（CIP）儿童的遗传基础。
对先证者进行靶向捕获和新一代测序（NGS）。通过对先证者及其父母进行Sanger测序，确认疑似致病变异。
发现先证者携带SCN9A基因的复合杂合变异，即c.1598delA（p.N533Ifs*31）和c.295_296delCGinsAT（p.R99I），分别遗传自其父亲和母亲。这两个变异均被预测为致病性变异，且此前均未被报道。
SCN9A基因的复合杂合变异可能是该儿童CIP的病因。上述发现为该家庭提供了遗传咨询。
