A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mol Genet Genomic Med
; 9(3): e1611, 2021 03.
Article
em En
| MEDLINE
| ID: mdl-33534181
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_001127698.1c.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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Netherton
/
Inibidor de Serinopeptidase do Tipo Kazal 5
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2021
Tipo de documento:
Article