The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.

ABSTRACT:

Background and aims

Glucose phosphate isomerase (GPI) deficiency is an extremely rare autosomal recessive disorder caused by mutations in the GPI gene. In this research, the proband displaying typical manifestations of haemolytic anaemia and his family members were recruited to analyse the pathogenicity of the detected variants.

Methods

Peripheral blood samples were collected from the family members and genomic DNA was extracted and targeted for capture and sequencing. The effect of the candidate pathogenic variants on splicing was further investigated using the minigene splicing system. The computer simulation was also used for further analysis of the detected data.

Results

The proband carried the compound heterozygous variants c.633 + 3 A > G and c.295G > T in the G

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10332073 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature