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Article

A biochemical difference between HAI-2 variants causing syndromic and non-syndromic Congenital Sodium Diarrhea.

PloS one - 1 Jan 2026

Jensen Maiken Jaller, Mrackova Monika, Nonboe Annika Weile, Lembke Emilie Tina, Schar Christine, Jensen Jan Kristian, Silahtaroglu Asli, Villadsen René, Vogel Lotte Katrine

Abstract excerpt

Variants in the SPINT2 gene, encoding HAI-2, cause the syndromic form of autosomal recessive Congenital Sodium Diarrhea (CSD), a life-threatening disease with early-onset persistent diarrhea and stools containing elevated levels of sodium. A newly discovered variant, HAI-2 Y68C, causes a milder non-syndromic CSD-like condition in an isolated case. The present investigation compares biochemical features of the...

Read the complete abstract on PubMed

Topics

Humans
Serine Endopeptidases
Membrane Glycoproteins
Diarrhea
Prostasin
Sodium

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Metabolism, Inborn Errors

Mutation

Animals

Abnormalities, Multiple

Source

Open in PubMed Open full text

Identifiers

PMID: 42743157
DOI: 10.1371/journal.pone.0358119
PMCID: PMC13577384

Genes

SPINT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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