Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis

Miura, Kenichiro; Sekine, Takashi; Takahashi, Kazuhiro; Takita, Junko; Harita, Yutaka; Ohki, Kentaro; Park, Myoung-ja; Hayashi, Yasuhide; Tajima, Asako; Imamura, Masayuki; Hisano, Masataka; Murai, Miki; Igarashi, Takashi

doi:10.1093/ndt/gft216

Cited by 29 publications

(11 citation statements)

References 21 publications

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“…There is the possibility of a potential undetected deletion involving one or more exons of the ATP6V1B1 gene. However, there is no evidence of the existence of large rearrangements in this gene (25). It is also worth noting that few Mendelian recessive diseases that are multigenic usually present mutations in heterozygosis located at different genes (26).…”

Section: Discussionmentioning

confidence: 99%

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

et al. 2015

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Section: Discussionmentioning

confidence: 99%

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

et al. 2015

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“…In a small-scale study in China [12], which is a neighboring Far East country, none of the four index patients with dRTA had SLC4A1 mutations. However, a study from Japan [14], another neighboring country, screened only ATP6V1B1 and ATP6V0A4 and showed that five of the nine index patients had no mutations in either of the genes and that at least some of these five patients are likely to have SLC4A1 mutations.…”

Section: Discussionmentioning

confidence: 99%

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Park

Cho

Hyun

et al. 2018

Kidney Blood Press Res

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Background/Aims: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. Methods: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. Results: Pathogenic mutations, including six novel mutations, were detected in 15 (88.2%) patients: dominant SLC4A1 mutations in ten (58.8%) patients, recessive ATP6V0A4 mutations in three (17.6%) patients, and recessive ATP6V1B1 mutations in two (11.8%) patients. Compared to other patients, patients with SLC4A1 mutations showed an older age of onset (3.7 ± 2.6 years) and less severe metabolic acidosis at initial presentation. All patients developed nephrocalcinosis, and sensorineural hearing loss was observed in two patients with ATP6V1B1 mutations. Three (17.6%) patients had decreased renal function (chronic kidney disease stage 2), and five (29.4%) patients had persistent growth retardation at the last follow-up. Long-term prognosis showed no genotype–phenotype correlation. Conclusions: SLC4A1 is the most common defective gene in Korean children with dRTA. Patients with SLC4A1 mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA.

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“…A few cases harbored ATP6V1B1 mutations without SNHL have been described. 8,9 Recent genetic analyses have revealed that some individuals with mutations in the ATP6V0A4 gene also have early-onset severe SNHL. 9 And most recently, Andreucci et al described a child carrying ATP6V0A4 mutations with early profound SNHL and unexpected EVA.…”

Section: Introductionmentioning

confidence: 99%

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Gao

et al. 2014

Renal Failure

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The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years. Both ATP6V0A4 and ATP6V1B1 genes were preferentially screened in all index cases by direct sequence analysis. If inconclusive then SLC4A1 gene should be analyzed for mutation. Their clinical features, hearing status and inner ear imaging structure were also investigated. Six loss-of-function mutations were identified in six patients. Two novel mutations were identified in either of ATP6V0A4 and ATP6V1B1 genes, respectively. Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL, respectively, the former comorbid with EVA, while the latter not; however, both their elder sisters showed normal hearing and inner ear. These findings expand the spectrum of mutations in the ATP6V0A4 and ATP6V1B1 genes associated with primary dRTA. Our study confirms the association of EVA and mutations in either of these two genes. More studies are necessary to clarify the relationship between dRTA, SNHL, EVA, and gene mutations.

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Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis

Cited by 29 publications

References 21 publications

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

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