Unknown

Dataset Information

0

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.

SUBMITTER: Mintoff D 

PROVIDER: S-EPMC8104165 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC9500337 | biostudies-literature
| S-EPMC9666520 | biostudies-literature
| S-EPMC8949093 | biostudies-literature
| S-EPMC3401839 | biostudies-literature
| S-EPMC10844249 | biostudies-literature
| S-EPMC8989920 | biostudies-literature
| S-EPMC9085953 | biostudies-literature
| S-EPMC6530248 | biostudies-literature
| S-EPMC8077117 | biostudies-literature
| S-EPMC10218509 | biostudies-literature