Biallelic gene mutations for the diagnosis of neonatal systemic hypertension

The present invention relates to a method and kit for identifying a subject having or at risk of having or developing an isolated neonatal systemic hypertension (NSH) and/or NSH associated cardiogenic shock, comprising determining, in a sample obtained from said subject, the presence or absence of bi-allelic nucleotide variants (NV) located in NPR1 gene, said NV predicted to be pathogenic and being associated with NPR1 loss of function. The present inventors have established a statistical link between specific predicted pathogenic variants located in the NPR1 gene and neonatal systemic hypertension (NSH) in a cohort of NSH disease families. More precisely, the present inventors have established a link between specific predicted biallelic pathogenic variants contained in NPR1 in patients with NSH and/or cardiogenic shock (in multiplex and consanguineous families) associated sometime with increased Nuchal Translucency (NT). Another object of the invention relates to a method for treating neonatal systemic hypertension (NSH) and/or NSH associated cardiogenic shock.

Keywords: neonatal systemic hypertension (NSH), NPR1, Diagnosis, mutation, sequencing, transcriptomics
Patent Application number: European Procedure (Patents) (EPA) - 24 Avr. 2023 - 23 315 100.0 and PCT/EP2024/060551 on 18/04/2024
Inventors:
MELKI Judith,CAPRI Yline
Publications:
J Med Genet, 2023 Apr 20, Capri et al, Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension, doi: 10.1136/jmg-2023-109176. Online ahead of print.

Reference:

BIO23100-D1

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Patent filling date: 2023-04-24

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