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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Fructose-1,6-Diphosphatase Deficiency
/
Genetic Testing
/
High-Throughput Nucleotide Sequencing
/
Fructose
/
Mutation
Type of study:
Prognostic study
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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