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© 2021. This article is published under http://creativecommons.org/licenses/by-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

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.

Details

Title
A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient
Author
Hamza, Nishath; Nashat Al Sukaiti; Khwater AM Ahmed; Romano, Rosa; Gokhale, Uday A; Pan-Hammarström, Qiang
Pages
652-656
Section
Case Reports
Publication year
2021
Publication date
Nov 2021
Publisher
Sultan Qaboos University
ISSN
2075051X
e-ISSN
20750528
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2621063225
Copyright
© 2021. This article is published under http://creativecommons.org/licenses/by-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.