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[Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency]
Shengnan Wu1, Qiong Chen, Fang Liu
1Department of Pediatric Endocrinology and Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China. haiyanwei2009@163.com.
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.
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