A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa.

ABSTRACT:

Background

Glycogen storage diseases (GSDs) are a group of heterogeneous inherited metabolic disorders with an incidence of 4%-5%. There are 19 types of GSDs, making diagnosis one of the greatest challenges.

Methods

The proband and his parents were referred to our hospital for genetic diagnosis. Ultrasound screening suggested hepatomegaly. A novel insertion variant NM_000292 c.1155_1156insT (p. 386N>*) in PHKA2 gene was identified using trio whole exome sequencing (Trio-WES), which resulted in the codon of amino acid 386 from asparagine to termination (p. 386N>*). The 3D mutant protein structure was predicted using AlphaFold, and the results showed that the truncated PHKA2 protein contained 385 of the 1,235 amino acids of the mature protein.

Conclusion

We descr

SUBMITTER: Zhu H 

PROVIDER: S-EPMC10773889 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature