Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

Yenchitsomanus, Pa‐thai; Vasuvattakul, Somkiat; Kirdpon, Sukachart; Wasanawatana, Sirijitta; Susaengrat, Wattanachai; Sreethiphayawan, Suchai; Chuawatana, Duangporn; Mingkum, Sumitra; Sawasdee, Nunghathai; Thuwajit, Peti; Wilairat, Prapon; Malasit, Prida; Nimmannit, S

doi:10.1053/ajkd.2002.33909

Cited by 48 publications

(53 citation statements)

References 18 publications

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“…Primary dRTA can be inherited as either an autosomal dominant or recessive trait (17,18). Patients with recessive dRTA are severely affected and often present with systemic metabolic acidosis, growth retardation, and hearing loss.…”

Section: Discussionmentioning

confidence: 99%

Vacuolar H+-ATPase B1 Subunit Mutations that Cause Inherited Distal Renal Tubular Acidosis Affect Proton Pump Assembly and Trafficking in Inner Medullary Collecting Duct Cells

Yang

Singh

et al. 2006

Journal of the American Society of Nephrology

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Section: Discussionmentioning

confidence: 99%

Vacuolar H+-ATPase B1 Subunit Mutations that Cause Inherited Distal Renal Tubular Acidosis Affect Proton Pump Assembly and Trafficking in Inner Medullary Collecting Duct Cells

Yang

Singh

et al. 2006

Journal of the American Society of Nephrology

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“…Recently, some studies of dRTA have indicated a strong association between SAO and dRTA, suggesting a common genetic basis for both SAO and dRTA Bruce et al 2000;Yenchitsomanus et al 2002). Among our patients, more females were affected than males (Table 1).…”

Section: Discussionmentioning

confidence: 58%

“…In fact, the combination of the classical mutation for SAO with other band 3 protein/anion exchanger 1 mutations has only recently been discovered (Bruce and Tanner 1999). The anion transport-inactive SAO allele behaves as a band 3 null allele so that normally recessive band 3 protein/anion exchanger 1 mutations associated with dRTA are expressed as pseudodominants Bruce et al 2000;Yenchitsomanus et al 2002). Thus, the samples from the dRTA subjects of this study will be analyzed further with the aim of identifying a second band 3 protein/anion exchanger 1 mutation in the gene.…”

Section: Discussionmentioning

confidence: 99%

High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis

et al. 2003

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Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.

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“…We have recently identified an additional seven patients with AR dRTA from five families exhibiting the homozygous AE1 G701D mutation in Thailand (Yenchitsomanus et al 2002). None of the patients had xerocytic hemolytic anemia, which was found in two patients with the homozygous AE1 G701D mutation previously documented (Tanphaichitr et al 1998).…”

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confidence: 92%

Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population

et al. 2003

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We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. It is thus of interest to examine the prevalence of these mutations in the Thai population. The SAO and G701D mutations were examined in 844 individuals from north, northeast, central, and south Thailand. Other reported mutations including R602H, DV850, and A858D were also examined in some groups of subjects. The SAO mutation was common in the southern Thai population; its heterozygote frequency was 7/206 and estimated allele frequency 1.70%. However, this mutation was not observed in populations of three other regions of Thailand. In contrast, the G701D mutation was not found in the southern population but was observed in the northern, northeastern, and central populations, with heterozygote frequencies of 1/216, 3/205, and 1/217, and estimated allele frequencies of 0.23%, 0.73%, and 0.23%, respectively. The higher allele frequency of the G701D mutation in the northeastern Thai population corresponds to our previous finding that all Thai patients with AR dRTA attributable to homozygous G701D mutation originate from this population. This suggests that the G701D allele that is observed in this region might arise in northeastern Thailand. The presence of patients with compound heterozygous SAO/G701D in southern Thailand and Malaysia and their apparently absence in northeastern Thailand indicate that the G701D allele may have migrated to the southern peninsular region where SAO is common, resulting in pathogenic allelic interaction.

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Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

Cited by 48 publications

References 18 publications

Vacuolar H+-ATPase B1 Subunit Mutations that Cause Inherited Distal Renal Tubular Acidosis Affect Proton Pump Assembly and Trafficking in Inner Medullary Collecting Duct Cells

Vacuolar H+-ATPase B1 Subunit Mutations that Cause Inherited Distal Renal Tubular Acidosis Affect Proton Pump Assembly and Trafficking in Inner Medullary Collecting Duct Cells

High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis

Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population

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