ArticleHuman genetics2011
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 38 citations in OpenAlex.
- Secondary hyperaldosteronism associated with severe infantile atopic dermatitis: a case series.Annals of pediatric endocrinology & metabolism · 2026Article
- Identification of diagnostic biomarkers and dissecting immune microenvironment with crosstalk genes in the POAG and COVID-19 nexus.Scientific reports · 2025Article
- Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Review
- Case Report: NovelFrontiers in pediatrics · 2022Article
- Switching the Inhibitor-Enzyme Recognition Profile via Chimeric Carbonic Anhydrase XII.ChemistryOpen · 2021Article
- Human carbonic anhydrases and post-translational modifications: a hidden world possibly affecting protein properties and functions.Journal of enzyme inhibition and medicinal chemistry · 2020Review
- Carbonic anhydrases as disease markers.Expert opinion on therapeutic patents · 2019Review
- Review
- Genome-wide association study for feed efficiency and growth traits in U.S. beef cattle.BMC genomics · 2017Article
- Transcriptome sequencing of HER2-positive breast cancer stem cells identifies potential prognostic marker.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.Human molecular genetics · 2016Article
- Interindividual variability in sweat electrolyte concentration in marathoners.Journal of the International Society of Sports Nutrition · 2016Article
- Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.The Journal of physiology · 2015Article
- Eccrine sweat gland development and sweat secretion.Experimental dermatology · 2015Review
- Probing the surface of human carbonic anhydrase for clues towards the design of isoform specific inhibitors.BioMed research international · 2015Review
- CFTR-mediated Cl(-) transport in the acinar and duct cells of rabbit lacrimal gland.Current eye research · 2012Article
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic disorders of excessive salt loss from sweat glands have been observed in pseudohypoaldosteronism type I (PHA) and cystic fibrosis that result from mutations in genes encoding epithelial Na+ channel (ENaC) subunits and the transmembrane conductance regulator (CFTR), respectively. We identified a novel autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration. Three affected individuals from a small Bedouin clan presented with failure to thrive, hyponatremic dehydration and hyperkalemia with isolated sweat salt wasting. Using positional cloning, we identified the association of a Glu143Lys mutation in carbonic anhydrase 12 (CA12) with the disease. Carbonic anhydrase is a zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide to form a bicarbonate anion and a proton. Glu143 in CA12 is essential for zinc coordination in this metalloenzyme and lowering of the protein-metal affinity reduces its catalytic activity. This is the first presentation of an isolated loss of salt from sweat gland mimicking PHA, associated with a mutation in the CA12 gene not previously implicated in human disorders. Our data demonstrate the importance of bicarbonate anion and proton production on salt concentration in sweat and its significance for sodium homeostasis.
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