Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 213-215, 2022.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-928392
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1).@*METHODS@#High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing.@*RESULTS@#High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant.@*CONCLUSION@#The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Pruebas Genéticas
/
Creatina
/
Encefalopatías Metabólicas Innatas
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Heterocigoto
/
Mutación
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo