الملخص
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or hyper-immunoglobulin E syndrome. Although more than 80 NS-associated pathogenic mutations in the serine peptidase inhibitor kazal type 5 (SPINK5) gene have been reported worldwide, only one has been reported in the Arab population to date. We report the case of a novel association between the c.1887+1G>A mutation in the SPINK5 gene and NS in an Omani-Arab patient born in 2014 who was managed at a paediatric immunology clinic in Muscat, Oman. Accurate genetic diagnosis facilitated tailored clinical management of the index patient and enabled the provision of genetic counselling and offering of future reproductive options to the individuals related to the index patient.
بيانات النشر
- المعرّف الرقمي
- 10.18295/squmj.4.2021.047
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 21(4), 652-656
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Hamza, N., Al-Sukaiti, N., Ahmed, K. A., Romano, R., Gokhale, U. A., & Pan-Hammarström, Q. (2025). A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient. Sultan Qaboos University Medical Journal, 21(4), 652-656. https://doi.org/10.18295/squmj.4.2021.047
MLA 9
Hamza, Nishath, et al. "A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient." Sultan Qaboos University Medical Journal, vol. 21, no. 4, 2025, pp. 652-656. https://doi.org/10.18295/squmj.4.2021.047.
شيكاغو (المؤلف–التاريخ)
Hamza, Nishath, Nashat Al-Sukaiti, Khwater AM Ahmed, Rosa Romano, Uday A. Gokhale, and Qiand Pan-Hammarström. 2025. "A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient." Sultan Qaboos University Medical Journal 21 (4): 652-656. https://doi.org/10.18295/squmj.4.2021.047.
هارفارد
Hamza, N., Al-Sukaiti, N., Ahmed, K. A., Romano, R., Gokhale, U. A. and Pan-Hammarström, Q. (2025) 'A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient', Sultan Qaboos University Medical Journal, 21(4), pp. 652-656. doi:10.18295/squmj.4.2021.047.
فانكوفر
Hamza N, Al-Sukaiti N, Ahmed KA, Romano R, Gokhale UA, Pan-Hammarström Q. A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient. Sultan Qaboos University Medical Journal. 2025;21(4):652-656. doi:10.18295/squmj.4.2021.047
IEEE
N. Hamza, N. Al-Sukaiti, K. A. Ahmed, R. Romano, U. A. Gokhale, and Q. Pan-Hammarström, "A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient," Sultan Qaboos University Medical Journal, vol. 21, no. 4, pp. 652-656, 2025, doi: 10.18295/squmj.4.2021.047.