SynthesisMolecular genetics & genomic medicine2023
Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.
Synthesis in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.Molecular genetics & genomic medicine · 2023Pooled it
- KCNJ16 tubulopathy presenting with recurrent acute flaccid paralysis and sensorineural hearing loss.Pediatric nephrology (Berlin, Germany) · 2026Article
- Acute Flaccid Paralysis Due to KCNJ16 Channelopathy.Indian journal of pediatrics · 2025Article
- Role of KThe American journal of pathology · 2025Article
- Characterization of a novel variant in KCNJ16, encoding KPhysiological reports · 2024Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundBiallelic pathogenic variants in the KCNJ16 gene result in hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. Currently, nine individuals with HKTD have been reported, and seven pathogenic variants in KCNJ16 have been revealed.
methodsA 5-year-6-month-old Chinese female patient displayed hypokalemic metabolic acidosis, salt wasting, renin-angiotensin-aldosterone system (RAAS) activation, arrhythmia, myocardial damage, cardiogenic shock and secondary diffuse brain oedema. Trio-based whole-exome sequencing (WES) was applied to detect the genetic cause.
resultsNovel compound heterozygous variants, c.190A>C (p.Thr64Pro) and c.628C>G (p.His210Asp), in KCNJ16 were detected in the patient, and these variants were inherited from the patient's mother and father, respectively. Then, we systematically reviewed the available clinical manifestations of individuals with HKTD. We found that HKTD patients are at risk of cardiogenic shock and secondary diffuse brain oedema, which urges clinicians to make early diagnoses with prompt treatments.
conclusionThese findings expand the variant spectrum of KCNJ16, enrich the clinical characteristics of HKTD, and provide a solid base for the genetic counseling, diagnosis and treatment of this condition.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.