{
  "abstract": "Research question: Can preimplantation genetic testing for monogenic disorders (PGT-M) be effectively implemented to prevent recurrence of X-linked severe combined immunodeficiency (X-SCID) caused by a novel IL2RG variant when conventional parental carrier testing initially yields a negative result?\n\nDesign: Case report: A Thai couple with a prior affected child (deceased; T⁻B⁺NK⁻ immunophenotype; IL2RG c.676C > G, p.(Arg226Gly)) underwent whole exome sequencing (WES), which was initially negative in both parents. Subsequent WES reanalysis identified a low-level heterozygous signal (~ 12% allele frequency) in the mother's blood, below the standard 30% calling threshold, consistent with low-level maternal mosaicism. Direct sequencing and PCR–RFLP from buccal swab tissue showed a concordant low-level signal in a second tissue compartment. Six blastocysts obtained via ICSI underwent trophectoderm biopsy for combined PGT-M (targeted to the proband's confirmed variant) and comprehensive chromosomal screening (PGT-A).\n\nResults: Four blastocysts were euploid and two aneuploids. Of the euploid embryos, three were mutation-free (wild-type) and one carried the IL2RG c.676C > G variant. A single frozen-thawed embryo transfer of a mutation-free euploid embryo resulted in a confirmed intrauterine pregnancy. Non-invasive prenatal testing (NIPT) at 12 weeks demonstrated low risk for Trisomy 21, 18, and 13, with fetal sex concordant with PGT-A findings.\n\nConclusions: The novel IL2RG c.676C > G (p.(Arg226Gly)) variant identified at a known mutational hotspot (codon 226) and absent from global variant databases is classified as Likely Pathogenic per ACMG criteria. Low-level maternal mosaicism was subsequently identified in blood and supported by concordant low-level findings in buccal mucosa, clarifying recurrence-risk counselling for this family. PGT-M anchored to the proband's confirmed IL2RG variant successfully identified three transferable, euploid, mutation-free embryos, and transfer of one embryo resulted in an ongoing pregnancy. This case demonstrates that ICSI with PGT-M can prevent X-SCID recurrence even when standard parental carrier testing is initially non-informative, establishing a reproductive workflow applicable to families in whom the proband's variant is confirmed.",
  "abstract_shown": true,
  "affiliations": [
    "Gift Fertility Co., Ltd., Bangkok, Thailand",
    "Nakornthon Gift Fertility Center, Bangkok, Thailand"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Rattanamon Koonthaweelab"
    },
    {
      "affs": [
        1
      ],
      "name": "Napadon Yaibuates"
    },
    {
      "affs": [
        1
      ],
      "name": "Pongpet Benjaponwattana"
    },
    {
      "affs": [
        0
      ],
      "name": "Busarin Boonyacheeva"
    },
    {
      "affs": [
        0
      ],
      "name": "Jitti Saksantisuk"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/d7j8n5zjfk13r.bib",
  "cited_by": 0,
  "doi": "10.1007/s10815-026-03985-0",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13731569/",
  "id": "d7j8n5zjfk13r",
  "issns": [
    "1058-0468",
    "1573-7330"
  ],
  "landing_url": "https://doi.org/10.1007/s10815-026-03985-0",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7171509080",
  "pdf_url": "https://link.springer.com/content/pdf/10.1007/s10815-026-03985-0.pdf",
  "pmcid": "PMC13731569",
  "pmid": "42521961",
  "published": "2026-07-28",
  "publisher": "Springer",
  "ris": "https://research.draconitic.com/paper/d7j8n5zjfk13r.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:21:44Z",
      "native_id": "PMC13731569",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s10815-026-03985-0"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Prevention of recurrence of severe combined immunodeficiency through preimplantation genetic testing: a case study of a novel IL2RG variant and confirmed maternal somatic mosaicism in Thailand",
  "title_text": "Prevention of recurrence of severe combined immunodeficiency through preimplantation genetic testing: a case study of a novel IL2RG variant and confirmed maternal somatic mosaicism in Thailand",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:21:44Z",
  "url": "https://research.draconitic.com/paper/d7j8n5zjfk13r",
  "venue": "Journal of Assisted Reproduction and Genetics",
  "versions": []
}