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

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Abstract: 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

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Molecular genetics & genomic medicine. - 9, 3 (2021) , e1611, ISSN: 2324-9269

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2021

Creator: Mintoff, Dillon
Borg, Isabella
Keller, Julia
Mercieca, Liam
Merdzanic, Rijad
Numrich, Johannes
Aquilina, Susan
Pace, Nikolai Paul
Fischer, Judith

DOI: 10.1002/mgg3.1611

URN: urn:nbn:de:bsz:25-freidok-1942246

Rights: Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:29 AM CEST

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Associated

Mintoff, Dillon
Borg, Isabella
Keller, Julia
Mercieca, Liam
Merdzanic, Rijad
Numrich, Johannes
Aquilina, Susan
Pace, Nikolai Paul
Fischer, Judith
Universität

Time of origin

2021

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

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Other Objects (12)

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

The RNA structure of the major splice donor site controls HIV-1 splicing

Impact of RNA structure on the prediction of donor and acceptor splice sites

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

EnsembleSplice: ensemble deep learning model for splice site prediction

Accumulation of GC donor splice signals in mammals

An intron 9 containing splice variant of PAX2

Regulation of alternative splice site selection

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

The RNA structure of the major splice donor site controls HIV-1 splicing

Impact of RNA structure on the prediction of donor and acceptor splice sites

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

EnsembleSplice: ensemble deep learning model for splice site prediction

Accumulation of GC donor splice signals in mammals

An intron 9 containing splice variant of PAX2

Regulation of alternative splice site selection

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

The RNA structure of the major splice donor site controls HIV-1 splicing

Impact of RNA structure on the prediction of donor and acceptor splice sites

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

EnsembleSplice: ensemble deep learning model for splice site prediction

Accumulation of GC donor splice signals in mammals

An intron 9 containing splice variant of PAX2

Regulation of alternative splice site selection

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