[
    {
        "id": "osp-11425",
        "type": "article-journal",
        "title": "A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family",
        "author": [
            {
                "family": "Al-Tobi",
                "given": "Mohammed"
            },
            {
                "family": "Kashoob",
                "given": "Masoud"
            },
            {
                "family": "Bayoumi",
                "given": "Surendranath"
            },
            {
                "family": "Riad",
                "given": ""
            }
        ],
        "URL": "https://omanscience.com/ar/articles/a-novel-splice-site-allelic-variant-is-responsible-for-wilson-disease-in-an-omani-family",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2025
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "11",
        "issue": "3",
        "page": "357-362",
        "DOI": "10.18295/2075-0528.1294",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "abstract": "Objectives: The objective of this study was to characterise Wilson's Disease (WD) [OMIM 277900] genetically and test for allelic variants in the copper transport gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) responsible for the disease in an Omani family. Methods: Three index patients from an Omani family had been previously diagnosed with WD. All three patients suffered neurological symptoms and signs. Forty-six relatives in the family were screened for WD. Eleven more individuals were positive, but asymptomatic. Results: Thirteen non-disease-causing allelic gene variants, described previously, were identified in the ATP7B gene from 46 family members. A putative novel disease-causing splice-site variant (c.2866-2A>G), which has not been reported previously, was detected in this family. It is located upstream of exon 13 which encodes part of transmembrane copper channel (Ch/Tm6). Reverse transcription polymerase chain reaction was used to amplify a complementary DNA (cDNA) fragment containing exons 12, 13 and 14. Exon 13 was entirely skipped from the transcript which probably would result in a defective ATP7B protein. Conclusion: A new ATP7B splice-site allelic variant, found among the 14 WD patients segregated with the disease in a recessive manner, suggests it is a disease-causing variant."
    }
]