1.Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency.
Shengnan WU ; Qiong CHEN ; Fang LIU ; Yongxing CHEN ; Haiyan WEI
Chinese Journal of Medical Genetics 2019;36(3):246-248
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.
Child
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Fructose
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Fructose-1,6-Diphosphatase Deficiency
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Genetic Testing
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Mutation