{
  "abstract": "Cockayne syndrome (CS) is a rare autosomal recessive DNA repair disorder caused by biallelic pathogenic variants in excision repair cross-complementation group 6 (ERCC6) or group 8 (ERCC8) and characterized by progressive postnatal growth failure, neurodevelopmental impairment, photosensitivity, and premature-aging features. Its evolving multisystem phenotype can complicate early clinical recognition, particularly when molecular testing identifies a variant of uncertain significance (VUS).\n\nWe report a Sudanese girl residing in Saudi Arabia, born to consanguineous parents, with normal birth parameters and initially satisfactory development who, from late infancy, developed progressive postnatal growth failure, acquired microcephaly, and global developmental delay. Subsequent photosensitivity, progeroid features, spasticity, ataxia, tremor, and reported hearing and visual impairment raised clinical suspicion for CS, although Sanjad-Sakati syndrome was initially considered. Whole-exome sequencing (WES) identified a homozygous canonical acceptor splice-site variant in ERCC8 (NM_000082.3:c.482-2A>T), predicted to disrupt normal splicing. Although listed as likely pathogenic in ClinVar, it was classified by the testing laboratory as a VUS. Given the strong phenotypic concordance, the variant was interpreted as supportive of, but not independently diagnostic for, CS.\n\nThis case underscores the importance of longitudinal phenotypic assessment for recognizing CS and highlights the need for cautious integration of molecular findings with the clinical phenotype when genetic testing identifies a VUS.",
  "abstract_shown": true,
  "affiliations": [
    "General Medicine, Independent Practice, Denver, USA",
    "Pediatrics and Child Health, Dr. Erfan & Bagedo General Hospital, Jeddah, SAU"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 2,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Fatma Ragab"
    },
    {
      "affs": [
        1
      ],
      "name": "Alaa Alhag"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/b8a3daj3yj6b8.bib",
  "cited_by": 0,
  "doi": "10.7759/cureus.117244",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13722474/?tool=EBI",
  "id": "b8a3daj3yj6b8",
  "issns": [
    "2168-8184"
  ],
  "landing_url": "https://europepmc.org/article/PMC/PMC13722474",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Genetics"
    ],
    [
      "heading",
      "Neurology"
    ],
    [
      "heading",
      "Pediatrics"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7214936308",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13722474/pdf/?tool=EBI",
  "pmcid": "PMC13722474",
  "pmid": "42965223",
  "published": "2026-09-30",
  "publisher": "Cureus Inc.",
  "ris": "https://research.draconitic.com/paper/b8a3daj3yj6b8.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:21:36Z",
      "native_id": "PMC:PMC13722474",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13722474"
    },
    {
      "first_seen": "2026-11-03T12:22:58Z",
      "native_id": "PMC13722474",
      "source": "pmc",
      "url": "https://doi.org/10.7759/cureus.117244"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "heading:Genetics",
      "subfield": "genetics-genomics"
    },
    {
      "field": "medicine",
      "origin": "heading:Neurology",
      "subfield": "neurology"
    },
    {
      "field": "medicine",
      "origin": "heading:Pediatrics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Cockayne Syndrome Phenotype in a Sudanese Child With a Homozygous ERCC8 Splice-Site Variant of Uncertain Significance: A Case Report",
  "title_text": "Cockayne Syndrome Phenotype in a Sudanese Child With a Homozygous ERCC8 Splice-Site Variant of Uncertain Significance: A Case Report",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:22:58Z",
  "url": "https://research.draconitic.com/paper/b8a3daj3yj6b8",
  "venue": "Cureus",
  "versions": []
}