{
    "abstract": "The Rhabdoid tumor is an aggressive tumor that is commonly found in infants and children with a prevalence of about, 0.6 in every 1 million children. The SMARCB1 or SMARCA4 gene mutations can result in Rhabdoid tumor predisposition syndrome 1 and 2 respectively. In Indian customs, dried umbilical cord stumps that had fallen off were stored to treat various illnesses, including infertility.\nThis study aims to unravel the mystery behind recurrent childhood loss in a family using umbilical cord stumps of the deceased children.\nWe obtained the dried umbilical cord stumps of the deceased children, which were stored by their parents, as there was no genetic diagnosis performed on the children who passed away unexpectedly. Following DNA extraction from the parents' and the umbilical cord stumps, whole exome sequencing analysis (WES) was performed.\nThe WGS report showed a pathogenic germline mutation, Chr22:g.23791780; c.118C\u00a0>\u00a0T; (p.Arg40Ter) in the SMARCB1 gene causing Rhabdoid tumor predisposition syndrome 1, which was present in the children who passed away earlier. The mother was discovered to be a silent carrier with heterozygous mutant alleles, according to carrier screening and segregation analysis. Genetic counseling was given to the parents in light of the 50\u00a0% recurring risk in the foetus, and the continued pregnancy was determined to be normal. The diagnostic benefit of using dried umbilical cord stumps which are customarily retained by Indian parents who have had early childhood losses was demonstrated by this investigation.",
    "authors": [
        {
            "affiliation": "Department of Paediatrics & Neonatology, KMCH Institute of Health Sciences and Research, Coimbatore 641 014 Tamil Nadu, India.",
            "firstname": "Murugasamy",
            "initials": "M",
            "lastname": "Pradeepkumar"
        },
        {
            "affiliation": "Kovai Medical College and Hospital, Coimbatore 641014 Tamil Nadu, India.",
            "firstname": "Vignesh",
            "initials": "V",
            "lastname": "Kandhakumar"
        },
        {
            "affiliation": "Rio Hospital, Madurai 625020 Tamil Nadu, India. Electronic address: info@riohospital.com.",
            "firstname": "Muniasamy",
            "initials": "M",
            "lastname": "Saravanan"
        },
        {
            "affiliation": "Department of Biochemistry, Dr. N. G. P. College of Arts and Science College, Coimbatore, Tamil Nadu 641035, India.",
            "firstname": "Mohandass",
            "initials": "M",
            "lastname": "Kaviya"
        },
        {
            "affiliation": "Department of Zoology, Avinashilingam Institute for Home Science and Higher Education for Women, Coimbatore 641 043 Tamil Nadu, India; Head of Centre for Neuroscience, Department of Biotechnology, Karpagam Academy of Higher Education, Coimbatore 641 021 Tamil Nadu, India. Electronic address: gomathi_zoo@avinuty.ac.in.",
            "firstname": "Mohan",
            "initials": "M",
            "lastname": "Gomathi"
        }
    ],
    "conclusions": null,
    "copyrights": "Copyright \u00a9 2025 Elsevier B.V. All rights reserved.",
    "doi": "10.1016/j.gene.2025.149353",
    "journal": "Gene",
    "keywords": [
        "Dried umbilical cord stumps",
        "Recurrent child loss",
        "Rhabdoid tumor predisposition syndrome",
        "SMARCB1 gene",
        "Whole exome sequencing"
    ],
    "methods": null,
    "publication_date": "2025-02-27",
    "pubmed_id": "40010676",
    "results": "The WGS report showed a pathogenic germline mutation, Chr22:g.23791780; c.118C\u00a0>\u00a0T; (p.Arg40Ter) in the SMARCB1 gene causing Rhabdoid tumor predisposition syndrome 1, which was present in the children who passed away earlier. The mother was discovered to be a silent carrier with heterozygous mutant alleles, according to carrier screening and segregation analysis. Genetic counseling was given to the parents in light of the 50\u00a0% recurring risk in the foetus, and the continued pregnancy was determined to be normal. The diagnostic benefit of using dried umbilical cord stumps which are customarily retained by Indian parents who have had early childhood losses was demonstrated by this investigation.",
    "title": "Crucial role of preserving umbilical cord stumps for genetic decoding of a family with rhabdoid tumor predisposition syndrome.",
    "xml": "<Element 'PubmedArticle' at 0x7885048b1da0>"
}