Article
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.
American journal of medical genetics. Part A - 1 Jun 2025
Li Guohua, Du Mengyang, Deng Xujing, Wang Shuping, Zhou Zhou, Zhang Junyu, Bao Shihua
Abstract excerpt
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...
Topics
- Humans
- Female
- Pregnancy
- Abortion, Habitual
- Phenotype
- Galactosyltransferases
- Young Adult
- Exome Sequencing
- P Blood-Group System
- Heterozygote
- Mutation
- Adult
- East Asian People