ArticleEndocrine2010
A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.
Article in Endocrine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Case Report: Identification of Polygenic Mutations by Exome Sequencing.Frontiers in pediatrics · 2021Article
- A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.CEN case reports · 2020Article
- Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.Cell death & disease · 2020Article
- A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.Medicine · 2019Article
- Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.BMC nephrology · 2018Article
- Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.Pediatric nephrology (Berlin, Germany) · 2018Article
- Renal Tubular Acidosis: HAdvances in chronic kidney disease · 2018Review
- Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models.Translational research : the journal of laboratory and clinical medicine · 2018Article
- Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.Pediatric health, medicine and therapeutics · 2018Review
- Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.CEN case reports · 2015Article
- Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.PloS one · 2013Article
- Regulation of transport in the connecting tubule and cortical collecting duct.Comprehensive Physiology · 2012Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron. We searched for SLC4A1 gene mutations in six patients from a Chinese family with a severe phenotype of dRTA (growth impairment, severe metabolic acidosis, with/or without gross nephrocalcinosis and renal impairment). All coding regions of kidney isoform of AE1, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. A novel 1-bp duplication at nucleotide 2713 (c.2713dupG, band 3 Qingdao) in exon 20 of SLC4A1 in this family was identified by direct sequencing analysis. This duplication alters the encoded protein through codon 905, and results in a reading frame for 15 extra condons (instead of 8) before the new stop condon at position 919 (p.Asp905Glyfs15). We suggest that RTA should be considered as a diagnostic possibility in adult subjects with nephrocalcinosis and chronic renal insufficiency, and family survey should be carefully performed.
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