Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C

Özyurt, Kemal; Atasoy, Mustafa; Ertaş, Ragıp; Ulaş, Yılmaz; Akkuş, Muhammed Reşat; Kiraz, Aslıhan; Hennies, Hans Christian

doi:10.24953/turkjped.2019.04.020

Cited by 7 publications

(2 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The eyebrows are considered a prior choice to visualize this abnormality (Bittencourt et al, 2015). In addition, a few patients with NS only have ichthyosis linearis circumflexa (ILC) but do not have the changes of trichorrhexis invaginata (TI) (Guerra et al, 2015;Özyurt et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome

Wang

Song

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic predisposition. The disease is caused by a mutation in the SPINK5 gene (serine protease inhibitor of Kazal type 5) encoding LEKTI (lymphoepithelial Kazal type-related inhibitor). We performed whole-exome sequencing on one Chinese NS family and made genotype–phenotype correlation analysis on the patients clinically diagnosed with NS or congenital ichthyosis erythroderma. We identified a novel frameshift mutation c.2474_2475del (p.Glu825Glyfs*2) in the SPINK5 gene. The N-terminal mutations of LEKTI cause a severer phenotype, while the C-terminal mutations of LEKT1 are related to a milder phenotype. Our findings suggest that Netherton syndrome may be underestimated clinically, and our findings further expand the reservoir of SPINK5 mutations in Netherton syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome

Wang

Song

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

show abstract

“… 2 Owing to its dermatological manifestations, NS is often misdiagnosed as severe atopic dermatitis or hyper-IgE syndrome. 3 , 4 In NS patients, early genetic testing and diagnosis can prove critical to the provision of correct clinical management and decreased mortality.…”

mentioning

confidence: 99%

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient

Hamza

Sukaiti

Ahmed

et al. 2021

Sultan Qaboos Univ Med J

View full text Add to dashboard Cite

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

show abstract

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

Mintoff

Borg

Vornweg

et al. 2021

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression. Method Next‐generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies were performed by immunofluorescence microscopy of a lesional skin biopsy using anti‐LEKTI antibodies. Results We describe a novel SPINK5 likely pathogenic donor splice site variant (NM_001127698.1:c.2015+5G>A) in a patient with NS and confirm its functional significance by demonstrating complete loss of LEKTI expression in lesional skin by immunofluorescence analysis. Conclusion The 2015+5G>A is a novel, likely pathogenic variant in NS. Herein we review and assimilate documented SPINK5 pathogenic variants and discuss possible genotype–phenotype associations in NS.

show abstract

Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C

Cited by 7 publications

References 7 publications

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

Contact Info

Product

Resources

About