[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 392-396, 2022 Apr 10.
Article
en Zh
| MEDLINE
| ID: mdl-35446973
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Insensibilidad Congénita al Dolor
/
Canalopatías
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
China