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.
Article
Dans Chinois
| WPRIM
| ID: wpr-928392
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Dépistage génétique
/
Créatine
/
Encéphalopathies métaboliques congénitales
/
Retard mental lié à l'X
/
Hétérozygote
/
Mutation
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2022
Type:
Article
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