{
    "abstract": "Meier-Gorlin syndrome is an autosomal recessively inherited disorder of growth retardation, accompanied by microtia and patellae a/hypoplasia and characteristic facies. Pathogenic variants in genes associated with the initiation of DNA replication underlie the condition, with biallelic variants in CDT1 the most common cause. Using 10\u00d7 Chromium genome sequencing, we report CDT1 variants in an adult female, with an inframe amino acid deletion inherited in trans with a deep intronic variant which likely serves as the branchpoint site in Intron 8. Splicing defects arising from this variant were confirmed through in vitro analysis. At 49\u2009years, she represents the oldest patient with a molecular diagnosis described in the literature and is the first reported patient with Meier-Gorlin syndrome to have carried a successful pregnancy to term. Both of her pregnancies were complicated by postpartum hemorrhage and upon subsequent necessary hysterectomy, revealed uterine abnormalities. There is scant knowledge on reproductive ability and success in patients with Meier-Gorlin syndrome. Successful pregnancies among other clinically recognizable forms of primordial dwarfism have also not been described previously. This case is therefore of clinical interest for many forms of inherited growth retardation, and will assist in providing more information and clinical guidance for females of reproductive age.",
    "authors": [
        {
            "affiliation": "Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.",
            "firstname": "Karen M",
            "initials": "KM",
            "lastname": "Knapp"
        },
        {
            "affiliation": "MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.\nSouth East Scotland Clinical Genetics Service, NHS Lothian, Western General Hospital, Edinburgh, UK.",
            "firstname": "Jennie",
            "initials": "J",
            "lastname": "Murray"
        },
        {
            "affiliation": "Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.\nWessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.",
            "firstname": "I Karen",
            "initials": "IK",
            "lastname": "Temple"
        },
        {
            "affiliation": "Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.",
            "firstname": "Louise S",
            "initials": "LS",
            "lastname": "Bicknell"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2020 Wiley Periodicals LLC.",
    "doi": "10.1002/ajmg.a.62016",
    "journal": "American journal of medical genetics. Part A",
    "keywords": [
        "DNA replication",
        "Meier-Gorlin syndrome",
        "growth disorders",
        "pregnancy"
    ],
    "methods": null,
    "publication_date": "2020-12-19",
    "pubmed_id": "33338304",
    "results": null,
    "title": "Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.",
    "xml": "<Element 'PubmedArticle' at 0x788506c16b60>"
}