A novel SPINK5 gene mutation associated with netherton syndrome in an Omani patient
Joint Authors
Romano, Rosa
Gokhale, Adi A.
Hamzah, Nishath
al-Sukaiti, Nashat
Ahmad, Khawatir A. M.
Hammarstrom, Qiang Pan
Source
Sultan Qaboos University Medical Journal
Issue
Vol. 21, Issue 4 (30 Nov. 2021), pp.652-656, 5 p.
Publisher
Sultan Qaboos University College of Medicine and Health Sciences
Publication Date
2021-11-30
Country of Publication
Oman
No. of Pages
5
Main Subjects
Abstract EN
-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.
American Psychological Association (APA)
Hamzah, Nishath& al-Sukaiti, Nashat& Ahmad, Khawatir A. M.& Romano, Rosa& Gokhale, Adi A.& Hammarstrom, Qiang Pan. 2021. 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.
https://search.emarefa.net/detail/BIM-1356655
Modern Language Association (MLA)
Hamzah, 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 (Nov. 2021), pp.652-656.
https://search.emarefa.net/detail/BIM-1356655
American Medical Association (AMA)
Hamzah, Nishath& al-Sukaiti, Nashat& Ahmad, Khawatir A. M.& Romano, Rosa& Gokhale, Adi A.& Hammarstrom, Qiang Pan. A novel SPINK5 gene mutation associated with netherton syndrome in an Omani patient. Sultan Qaboos University Medical Journal. 2021. Vol. 21, no. 4, pp.652-656.
https://search.emarefa.net/detail/BIM-1356655
Data Type
Journal Articles
Language
English
Notes
Record ID
BIM-1356655