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.
Publication details
- DOI
- 10.18295/2075-0528.1294
- Journal
- Sultan Qaboos University Medical Journal, 11(3), 357-362
- Publisher
- Sultan Qaboos University
- Open access
- Gold open access
- License
- CC BY-ND 4.0
Cite this article
APA 7
Al-Tobi, M., Kashoob, M., Bayoumi, S., & Riad (2025). A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family. Sultan Qaboos University Medical Journal, 11(3), 357-362. https://doi.org/10.18295/2075-0528.1294
MLA 9
Al-Tobi, Mohammed, et al. "A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family." Sultan Qaboos University Medical Journal, vol. 11, no. 3, 2025, pp. 357-362. https://doi.org/10.18295/2075-0528.1294.
Chicago (author–date)
Al-Tobi, Mohammed, Masoud Kashoob, Surendranath Bayoumi, and Riad. 2025. "A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family." Sultan Qaboos University Medical Journal 11 (3): 357-362. https://doi.org/10.18295/2075-0528.1294.
Harvard
Al-Tobi, M., Kashoob, M., Bayoumi, S. and Riad (2025) 'A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family', Sultan Qaboos University Medical Journal, 11(3), pp. 357-362. doi:10.18295/2075-0528.1294.
Vancouver
Al-Tobi M, Kashoob M, Bayoumi S, Riad. A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family. Sultan Qaboos University Medical Journal. 2025;11(3):357-362. doi:10.18295/2075-0528.1294
IEEE
M. Al-Tobi, M. Kashoob, S. Bayoumi, and Riad, "A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family," Sultan Qaboos University Medical Journal, vol. 11, no. 3, pp. 357-362, 2025, doi: 10.18295/2075-0528.1294.