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Article

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Human molecular genetics - 15 May 2016

Lee Melissa, Vecchio-Pagán Briana, Sharma Neeraj, Waheed Abdul, Li Xiaopeng, Raraigh Karen S, Robbins Sarah, Han Sangwoo T, Franca Arianna L, Pellicore Matthew J, Evans Taylor A, Arcara Kristin M, Nguyen Hien, Luan Shan, Belchis Deborah, Hertecant Jozef, Zabner Joseph, Sly William S, Cutting Garry R

Abstract excerpt

Elevated sweat chloride levels, failure to thrive (FTT), and lung disease are characteristic features of cystic fibrosis (CF, OMIM #219700). Here we describe variants in CA12 encoding carbonic anhydrase XII in two pedigrees exhibiting CF-like phenotypes. Exome sequencing of a white American adult diagnosed with CF due to elevated sweat chloride, recurrent hyponatremia, infantile FTT and lung disease identified...

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Share to Carbonic Anhydrases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Gene Expression Regulation, Enzymologic

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Source

Open in PubMed Open full text

Identifiers

PMID: 26911677
DOI: 10.1093/hmg/ddw065
PMCID: PMC5062583

Genes

CFTR

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.

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