Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1097-1099, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776738
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.@*METHODS@#Variant analysis of the ADAR gene was carried out by Sanger sequencing.@*RESULTS@#Patient 1 was found to harbor a c.2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient 2. Functional prediction of the ADAR c.2633_2634delCT (p.Ser878fs) variant indicated it to be pathogenic by losing a catalytic structural domain.@*CONCLUSION@#The c.2633_2634delCT (p.Ser878fs) variant of the ADAR gene probably underlies the pathogenesis of DSH in one of the patients.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Trastornos de la Pigmentación
/
Tomografía Computarizada por Rayos X
/
Adenosina Desaminasa
/
Proteínas de Unión al ARN
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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