Genetic analysis of 21 cases of methylmalonic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 362-365, 2022.
Article
Dans Chinois
| WPRIM
| ID: wpr-928419
ABSTRACT
OBJECTIVE@#To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.@*METHODS@#Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.@*RESULTS@#In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.@*CONCLUSION@#Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Oxidoreductases
/
Dépistage génétique
/
Séquençage nucléotidique à haut débit
/
Aminoacidopathies congénitales
/
Mutation
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2022
Type:
Article
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