Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 526-529, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-928451
ABSTRACT
OBJECTIVE@#To detect the genetic variant of a child with cleidocranial dysplasia (CCD) and to find out the causation of the illness.@*METHODS@#Gene variant was identified by the second generation targeted sequencing and Sanger sequencing.@*RESULTS@#The gene sequencing revealed that the RUNX2 gene had c.196C>T(p.Glu66*) nonsense variant, which was predicted to be a pathogenic variant according to the ACMG guidelines(PVS1+PS2).@*CONCLUSION@#The variant of c.196C > T in the RUNX2 gene may be the cause of the child with CCD, and the novel variant enriches the RUNX2 gene variant spectrum.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
China
/
Displasia Cleidocraneal
/
Pueblo Asiatico
/
Subunidad alfa 1 del Factor de Unión al Sitio Principal
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Niño
/
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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