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 ; Fructose ; Fructose-1,6-Diphosphatase Deficiency ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation