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

Medicine

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