A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis

dc.creatorCheidde, L
dc.creatorVieira, TC
dc.creatorLima, PRM
dc.creatorSaad, STO
dc.creatorHeilberg, IP
dc.date2003
dc.dateDEC
dc.date2014-11-15T07:54:24Z
dc.date2015-11-26T17:19:04Z
dc.date2014-11-15T07:54:24Z
dc.date2015-11-26T17:19:04Z
dc.date.accessioned2018-03-29T00:06:44Z
dc.date.available2018-03-29T00:06:44Z
dc.identifierPediatrics. Amer Acad Pediatrics, v. 112, n. 6, n. 1361, n. 1367, 2003.
dc.identifier0031-4005
dc.identifierWOS:000186957500022
dc.identifier10.1542/peds.112.6.1361
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/76554
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/76554
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/76554
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1282808
dc.descriptionObjective. The anion exchanger gene (AE1) or band 3 encodes a chloride- bicarbonate (Cl-/ HCO3-) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers ( 10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive. Methods. AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing. Results. A complete form of dRTA was confirmed in the 2 affected brothers and an incomplete form in their father. All 3 were heterozygous for a novel 20-bp deletion in exon 20 of the AE1 gene. This deletion resulted in 1 mutation in codon 888 (Ala-8883 --> Leu) followed by a premature termination codon at position 889, truncating the protein by 23 amino acids. As band 3 deficiency might lead to spherocytic hemolytic anemia or ovalocytosis, erythrocyte abnormalities were also investigated, but no morphologic changes in erythrocyte membrane were found and the osmotic fragility test was normal. Conclusions. A novel mutation in the AE1 gene was identified in association with autosomal dominant dRTA. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.
dc.description112
dc.description6
dc.description1361
dc.description1367
dc.languageen
dc.publisherAmer Acad Pediatrics
dc.publisherElk Grove Village
dc.publisherEUA
dc.relationPediatrics
dc.relationPediatrics
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectdistal renal tubular acidosis
dc.subjectnephrocalcinosis
dc.subjectanion exchanger 1
dc.subjectband 3
dc.subjectCarbonic-anhydrase Ii
dc.subjectAnion-exchanger Ae1
dc.subjectHereditary Spherocytosis
dc.subjectBand-3 Ae1
dc.subjectAsian Ovalocytosis
dc.subjectAutosomal-dominant
dc.subjectCl-/hco3-exchanger
dc.subjectBinding-site
dc.subjectErythrocyte
dc.subjectMembrane
dc.titleA novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución