[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 64-67, 2022 Jan 10.
Article
en Zh
| MEDLINE
| ID: mdl-34964970
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).METHODS:
PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.RESULTS:
The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.CONCLUSION:
The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Adenosina Desaminasa
/
Proteínas de Unión al ARN
Límite:
Female
/
Humans
País/Región como asunto:
Asia
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