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Abstract

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency which is characterized by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or Hyper IgE syndrome. Although, over 80 pathogenic mutations in the SPINK5 gene have been reported worldwide in association with NS, only one NS-associated mutation has been reported in Arab populations to-date. This case report presents a novel association between the c.1887+1G>A mutation in the SPINK5 gene and NS in an Omani-Arab patient born in 2014. Accurate genetic diagnosis facilitated tailored clinical management of the index patient and enabled the provision of genetic counseling and offering of future reproductive options to the related individuals of the index patient.


Keywords: Netherton syndrome, autosomal recessive, Serine Peptidase Inhibitor Kazal-Type 5, Congenital Ichthyosiform Erythroderma, genetics


 

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How to Cite
Hamza, N., Al Sukaiti, N., Ahmed, K. A. M., Romano, R., Gokhale, U. A., & Hammarström, Q.-P. (2021). A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient. Sultan Qaboos University Medical Journal [SQUMJ], 1(1). https://doi.org/10.18295/squmj.4.2021.047