Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 64-67, 2022.
Article
en Zh
| WPRIM
| ID: wpr-928363
Biblioteca responsable:
WPRO
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
Base de datos:
WPRIM
Asunto principal:
Linaje
/
Trastornos de la Pigmentación
/
Adenosina Desaminasa
/
China
/
Proteínas de Unión al ARN
/
Mutación
Límite:
Female
/
Humans
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article