{
    "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.",
    "authors": [
        {
            "affiliation": "Department of Reproductive Immunology, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Guohua",
            "initials": "G",
            "lastname": "Li"
        },
        {
            "affiliation": "Department of Reproductive Immunology, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Mengyang",
            "initials": "M",
            "lastname": "Du"
        },
        {
            "affiliation": "Department of Reproductive Immunology, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Xujing",
            "initials": "X",
            "lastname": "Deng"
        },
        {
            "affiliation": "Department of Blood Bank, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Shuping",
            "initials": "S",
            "lastname": "Wang"
        },
        {
            "affiliation": "Reproductive Medicine Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Zhou",
            "initials": "Z",
            "lastname": "Zhou"
        },
        {
            "affiliation": "Reproductive Medicine Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Junyu",
            "initials": "J",
            "lastname": "Zhang"
        },
        {
            "affiliation": "Department of Reproductive Immunology, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
            "firstname": "Shihua",
            "initials": "S",
            "lastname": "Bao"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2025 Wiley Periodicals LLC.",
    "doi": "10.1002/ajmg.a.64017",
    "journal": "American journal of medical genetics. Part A",
    "keywords": [
        "A4GALT",
        "case report",
        "p phenotype",
        "recurrent pregnancy loss",
        "whole exome sequencing"
    ],
    "methods": null,
    "publication_date": "2025-02-05",
    "pubmed_id": "39907038",
    "results": null,
    "title": "Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.",
    "xml": "<Element 'PubmedArticle' at 0x788504ba16c0>"
}