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Article

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.

Cold Spring Harbor molecular case studies - 1 Nov 2016

Delpire Eric, Wolfe Lynne, Flores Bianca, Koumangoye Rainelli, Schornak Cara C, Omer Salma, Pusey Barbara, Lau Christopher, Markello Thomas, Adams David R

Abstract excerpt

This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo, loss-of-function allele in SLC12A2, the gene encoding the Na-K-2Cl cotransporter-1. The 11-bp deletion in exon 22 results in frameshift (p.Val1026Phefs*2) and truncation of...

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Identifiers

PMID: 27900370
DOI: 10.1101/mcs.a001289
PMCID: PMC5111002

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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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