A novel SPINK5 donor splice site variant in a child with Netherton syndrome
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
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
Molecular genetics & genomic medicine. - 9, 3 (2021) , e1611, ISSN: 2324-9269
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2021
- Urheber
-
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
- Rechteinformation
-
Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:29 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Mintoff, Dillon
- Borg, Isabella
- Keller, Julia
- Mercieca, Liam
- Merdzanic, Rijad
- Numrich, Johannes
- Aquilina, Susan
- Pace, Nikolai Paul
- Fischer, Judith
- Universität
Entstanden
- 2021
Ähnliche Objekte (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