Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.

BMJ case reports - 16 Jul 2017

Bou Chaaya Solange, Eason Julian D, Ofoegbu Bibian N

Abstract excerpt

We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Consanguinity
Share to Diarrhea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Failure to Thrive

Share to Infant

Share to Membrane Glycoproteins

Share to Metabolism, Inborn Errors

Source

Open in PubMed Open full text

Identifiers

PMID: 28716867
DOI: 10.1136/bcr-2016-217464
PMCID: PMC5534661

Genes

SPINT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.PMID 28716867Read ↗

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrheaSemantic proximity Read ↗

Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.Semantic proximity Read ↗

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.Semantic proximity Read ↗

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.Semantic proximity Read ↗

SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.Semantic proximity Read ↗

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.Semantic proximity Read ↗

Biallelic variants of the first Kunitz domain of SPINT2 cause none syndromic form of congenital diarrhea and tufting enteropathySemantic proximity Read ↗

Review article: the clinical management of congenital chloride diarrhoea.Semantic proximity Read ↗

The genetics of monogenic intestinal epithelial disorders.Semantic proximity Read ↗

Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.Semantic proximity Read ↗

Congenital diseases of the gastrointestinal tract.Semantic proximity Read ↗

Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.