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Title: Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
Authors: Gómez, Juan
Gil-Peña, Helena
Santos, Fernando
Coto, Eliecer
Arango, Ana
Hernandez, Olaya
Rodríguez, Julián
Nadal, Inmaculada
Cantos, Virginia
Chocrón, Sara
Vergara, Inés
Madrid, Álvaro
Vazquez, Carlos
González, Luz E
Blanco, Fiona
metadata.dc.subject.mesh: Acid-Base Equilibrium
Acidosis, Renal Tubular
Child, Preschool
Cost-Benefit Analysis
Genetic Variation
High-Throughput Nucleotide Sequencing
Infant, Newborn
Issue Date: 16-Nov-2015
Abstract: Primary 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. Ten 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. We 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. This 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.
metadata.dc.identifier.doi: 10.1038/pr.2015.243
Appears in Collections:Producción 2020

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