Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 246-248, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-772033
ABSTRACT
OBJECTIVE@#To analyze the genetic variant of a child with fructose-1, 6 bisphosphatase deficiency.@*METHODS@#Potential variant of the FBP1 gene was detected by next generation sequencing and verified by Sanger sequencing.@*RESULTS@#A compound heterozygous variant, c.826-2T>C and c.490G>A (p.Gly164Ser), was detected in the FBP1 gene. Among them, the c.490G>A(p.Gly164Ser) variant was derived from his mother and known to be pathogenic. The c.826-2T>C variant was derived from his father and was not reported previously.@*CONCLUSION@#The compound heterozygous variant of c.826-2T>C and c.490G>A(p.Gly164Ser) of the FBP1 gene probably underlie the disease in this patient. Genetic testing can facilitate diagnosis and genetic counseling and prenatal diagnosis.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Déficit en fructose-1,6-diphosphatase
/
Dépistage génétique
/
Séquençage nucléotidique à haut débit
/
Fructose
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Enfant
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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