Investigation ofATP6V1B1andATP6V0A4genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families

Zeinali, Fatemeh; Mohseni, Marzieh; Fadaee, Mahsa; Fattahi, Zohreh; Najmabadi, Hossein; Otukesh, Hasan; Kahrizi, Kimia

doi:10.1017/s0022215114002540

Cited by 3 publications

(3 citation statements)

References 16 publications

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“…The prevalence of hearing loss was higher in the ATP6V1B1 mutations, and patients with ATP6V1B1 mutation had statistically significantly higher PTAs than patients with ATP6V0A4 mutation. These findings are consistent with previous reports noted that hearing loss is more severe in ATP6V1B1 mutations than in ATP6V0A4 mutations [Karet et al, 1999a;Stover et al, 2002;Gao et al, 2014;Zeinali et al, 2014]. In previous reports, ATP6V1B1 mutations were associated with early-onset hearing loss, whereas ATP6V0A4 mutations were associated with lateonset hearing loss [Karet, 2002;Stover et al, 2002].…”

Section: Discussionsupporting

confidence: 93%

“…The association between dRTA and hearing loss was first reported by Royer andBroyer in 1967 [Royer andBroyer, 1967]. Since then, hearing loss with different characteristics in ATP6V0A4 and ATP6V1B1 mutations has been reported in many studies [Gil et al, 2007;Aksakal et al, 2009;Gao et al, 2014;Zeinali et al, 2014]. More recent studies have also reported hearing loss in FOXI1 mutations associated with dRTA [Enerbäck et al, 2018].…”

Section: Introductionmentioning

confidence: 93%

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Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

Gürses

Aslan

et al. 2023

Audiol Neurotol

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Introduction: Distal renal tubular acidosis (dRTA) is a disease that may develop either primarily or secondarily, resulting from urinary acidification defects in distal tubules. Hearing loss may accompany primary forms of dRTA. This study aims to determine the characteristics of hearing loss due to different gene mutations in patients with dRTA. Methods: Behavioral and electrophysiological audiological evaluations were performed after otolaryngology examination in 21 patients with clinically diagnosed dRTA. Radiological imaging of the inner ear (n = 9) was conducted and results of genetic analyses using next-generation sequencing method (n = 16) were included. Results: Twenty-one patients with dRTA from 20 unrelated families, aged between 8 months and 33 years (median = 12, interquartile range = 20), participated. All patients with ATP6V1B1 mutations (n = 9) had different degrees of hearing loss. There was one patient with hearing loss in patients with ATP6V0A4 mutations (n = 6). One patient with the WDR72 mutation had normal hearing. Large vestibular aqueduct syndrome (LVAS) was detected in 6 (67%) of 9 patients whose radiological evaluation results were available. Conclusions: LVAS is common in patients with dRTA and may influence the type and severity of hearing loss in these patients. The possibility of both congenital and late-onset and progressive hearing loss should be considered in dRTA patients. A regular audiological follow-up is essential for the early detection of a possible late-onset or progressive hearing loss in these patients.

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Section: Discussionsupporting

confidence: 93%

Section: Introductionmentioning

confidence: 93%

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

Gürses

Aslan

et al. 2023

Audiol Neurotol

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“…As expected, none of patients harboring SLC4A1 gene defects had deafness because the Cl − /HCO3 − anion exchanger does not express in the ears. It was classically assumed that dRTA caused by defective ATP6V1B1 gene was associated with early nerve hearing loss [7,28,[30][31][32][33], while ATP6V0A4 mutations were related with either late-onset deafness or normal hearing, [34][35][36][37][38][39][40]. Vargas-Poussou et al [41] challenged this assumption demonstrating genetic heterogeneity in dRTA associated with deafness and emphasizing the importance of mutational gene analysis for recessive forms of dRTA independent of Fig.…”

Section: Discussionmentioning

confidence: 99%

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

et al. 2018

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Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families

Escobar

Simian

Tréard

et al. 2016

Molec Gen & Gen Med

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BackgroundAutosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia.MethodsNine unrelated families were studied: seven children, a teenager, and an adult with dRTA. Hearing was preserved in four children. Coding regions of the genes responsible for recessive dRTA were analysed by Sanger sequencing.ResultsMolecular defects were found in the genes ATP6V1B1 and ATP6V0A4. We identified three homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs*56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5. Three patients were homozygous for one novel (p.Arg743Trp) and one known (p.Asp411Tyr) missense mutations in the ATP6V0A4 gene. Three patients were compound heterozygous: one proband displayed two novel mutations, the frameshift mutation p.Val52Metfs*25, and a large deletion of exons 18–21; two probands showed the missense mutation p.Asp411Tyr and as a second mutation, p.Arg194Ter and c.1691+2dup, respectively.Conclusion ATP6V0A4 and ATP6V1B1 genes were involved in recessive dRTA of Mexican families. All ATP6V1B1 mutations detected were homozygous and all patients developed sensorineural hearing loss (SNHL) early in infancy. ATP6V0A4 mutations were found in one infant and three children without SNHL, and in one teenager and one adult with SNHL confirming the phenotypic variability in this trait. The mutation p.Asp411Tyr detected in four Mexican families was due to a founder effect. Screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA in this population.

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Investigation ofATP6V1B1andATP6V0A4genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families

Abstract: ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.

Cited by 3 publications

References 16 publications

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families

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