Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

Köse, Engi̇n; Köse, Seda Şirin; Alparslan, Caner; Demir, Belde Kasap; Berdeli, Afig; Ozsan, F. Mutlubas; Yavaşcan, Önder; Aksu, Nejat

doi:10.3109/0886022x.2014.890055

Cited by 7 publications

(3 citation statements)

References 9 publications

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“…She was not deaf at diagnosis, and her hearing remained normal during the follow-up, up to date. Thus, these findings support that the association with SNHL is not a good indicator of the underlying causal gene, corroborating previously reported data (22)(23)(24), arising the advantage of NGS approach instead of selected Sanger phenotype-genotype sequencing approach (Figure 1). It is interesting to note that patient 306 that presented early DRTA and was diagnosed at 2 mo of life was found to harbor only one variation in heterozygosis -R394Q-in the ATP6V1B1 gene.…”

Section: Discussionsupporting

confidence: 80%

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

et al. 2015

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Section: Discussionsupporting

confidence: 80%

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

et al. 2015

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“…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]. However, recent studies indicate that early-onset hearing loss can also occur in ATP6V0A4 mutations [Vargas-Poussou et al, 2006;Batlle and Haque, 2012;Kose et al, 2014]. In our study, a patient with ATPV0A4 mutation had severe hearing loss that was noticed in the early stages of life (3 years old).…”

Section: Discussioncontrasting

confidence: 49%

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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“…Cases bearing ATP6V1B1 mutations usually accompany with early sensorineural hearing loss (SNHL), while ones caused by ATP6V0A4 mutations commonly comorbid with late-onset SNHL or normal hearing [4, 9]. But that’s not exactly true, some cases harboring ATP6V1B1 mutations without SNHL, and a few cases with ATP6V0A4 mutations with early-onset SNHL also have been described [10, 11]. In addition, in our previous report including six Chinese children patient with dRTA, we noticed that enlarged vestibular aqueduct (EVA), a special pathological change of inner ear, was almost concurrent with early onset SNHL regardless of mutations in ATP6V1B1 or in ATP6V0A4 [12].…”

Section: Introductionmentioning

confidence: 99%

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

Zhao

Gao

et al. 2018

BMC Nephrol

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BackgroundDistal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4 of apical H+-ATPase, respectively. The heterogeneous clinical manifestations of dRTA have been described in different ethnic groups harboring distinct mutations. Most of the reported cases are from Europe and Africa. At present, the prevalence of primary dRTA is still poorly elucidated in Chinese population.Case presentationA 2-year and six-month-old female patient was hospitalized because of recurrent hypokalemia, hyperchloremic metabolic acidosis and growth retardation. Laboratory investigations presented a normal anion gap hyperchloremic metabolic acidosis, hypokalemia, and inappropriate alkaline urine. Renal ultrasound indicated bilateral nephrocalcinosis. Bilateral sensorineural hearing loss (SNHL) was confirmed with moderately severe (45 dB) on the left ear and severe (80 dB) on the right ear, which was accompanied with enlarged vestibular aqueduct (EVA) on both sides. According to these findings, a diagnosis of dRTA was made. To identify the pathogenic gene mutation, all coding regions of ATP6V1B1 and ATP6V0A4 gene, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. The splicing variants were verified in peripheral blood leucocytes of the patient by RT-PCR. As a result, two novel heterozygous mutations in ATP6V1B1 were identified in the child. One mutation was a successive 2-nucleotide deletion in exon 2(c.133-134delTG), which caused a marked nonsense mediated mRNA decay. The other was a guanine to adenine substitution of the first nucleotide of intron 8(c.785 + 1 G > A), which led to the exclusion of exon 8. After treatment with sodium citrate, potassium citrateand citric acid, metabolic acidosis and hypokalemia were corrected, but her hearing decreased gradually during the 2 years and had to accept the use of bilateral hearing aids.ConclusionsWe described two novel dRTA associated mutations in ATP6V1B1 identified in a Chinese child patient accompanying with SNHL and EVA. Our study will help to expand the understanding of this rare disease in Chinese population.

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Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

Cited by 7 publications

References 9 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

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

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