Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency.
10.3760/cma.j.issn.1003-9406.2019.03.013
- Author:
Shengnan WU
1
;
Qiong CHEN
;
Fang LIU
;
Yongxing CHEN
;
Haiyan WEI
Author Information
1. Department 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.
- Publication Type:Case Reports
- MeSH:
Child;
Fructose;
Fructose-1,6-Diphosphatase Deficiency;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation
- From:
Chinese Journal of Medical Genetics
2019;36(3):246-248
- CountryChina
- Language:Chinese
-
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.
