Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual

ABSTRACT The rare p phenotype in the rare PP1Pk blood group system is closely associated with spontaneous first‐trimester abortions. Studies have shown that variants in the A4GALT gene contribute to the p phenotype. Here, we report two novel compound heterozygous variants in the A4GALT gene in a Chinese woman with p phenotype and recurrent pregnancy loss. A 24‐year‐old woman with recurrent pregnancy loss was admitted to our department. She was confirmed to be anti‐PP1Pk antibody‐positive, with an IgG titer of 1:32. Whole‐exome sequencing revealed the presence of two compound novel heterozygous variants c.370_371del and c.507C>G in the A4GALT gene, which contributed to the p phenotype and pregnancy loss in this woman. We also summarized the variants of the A4GALT gene reported in the literature. Our findings add more gene variant information on rare p phenotypes and related RPL.