ArticlePediatric research2016
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
Article in Pediatric research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 26 citations in OpenAlex.
- Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.Frontiers in molecular neuroscience · 2023Review
- Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute.Journal of pediatric genetics · 2022Article
- Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.Journal of nephrology · 2021Review
- Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary SpherocytosisIranian biomedical journal · 2021Article
- Familial distal renal tubular acidosis.The Journal of international medical research · 2021Article
- Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.Renal failure · 2018Article
- Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.Pediatric nephrology (Berlin, Germany) · 2018Article
- Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice.American journal of physiology. Renal physiology · 2018Article
- Clinical features and genetic findings in Chinese children with distal renal tubular acidosis.International journal of clinical and experimental pathology · 2018Article
- An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.BMC nephrology · 2017Article
- [Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis.Clinical kidney journal · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary distal renal tubular acidosis (DRTA) is a rare disease caused by loss-of-function mutations in at least three genes (ATP6V0A4, ATP6V1B1, and SLC4A1) involved in urinary distal acidification. The next-generation sequencing (NGS) technique facilitates the search for mutations in DRTA patients and helps to characterize the genetic and clinical spectrum of the disease.
methodsTen DRTA patients were studied. They had normal serum anion gap (AG), metabolic acidosis with simultaneous positive urinary AG, and inability to maximally acidify the urine. The exons of the three genes were sequenced in two pools by ultrasequencing. Putative mutations were confirmed by corresponding Sanger sequencing of each exon.
resultsWe found 13 mutations in nine patients. ATP6V0A4: Intron16+2insA; p.R807Q; p.Q276fs; p.P395fs; Intron7-2T>C. ATP6V1B1: p.I386fs; p.R394Q. SLC4A1: p.V245M; p.R589C; p.R589H; p.G609A. One case was a compound heterozygous with a known mutation in ATP6V1B1 (p.G609R) and a pathogenic variation at SLC4A1 (p.E508K). One patient was negative for mutations.
conclusionThis study evidences that NGS is labor and cost effective for the analysis of DRTA genes. Our results show for the first time SLC4A1 gene mutations in Spanish patients and disclose that compound heterozygosity at two different genes can be responsible for DRTA.
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