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Article

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

Molecular genetics & genomic medicine - 1 Nov 2020

Konishi Ken-Ichiro, Mizuochi Tatsuki, Honma Hitoshi, Etani Yuri, Morikawa Kazue, Wada Kazuko, Yamamoto Ken

Abstract excerpt

BACKGROUND: Congenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)-rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl- /HCO3- , Na+ -independent exchanger. Various mutations of SLC26A3 have been described in CCD. However, no de novo mutations have been found...

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Source

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Identifiers

PMID: 32951339
DOI: 10.1002/mgg3.1505
PMCID: PMC7667310

Genes

SLC26A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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