|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in <i>ATP6V0A4-</i>, <i>ATP6V1B1-</i>, and <i>FOXI1-</i>dRTA), and hereditary hemolytic anemia (in some individuals with <i>SLC4A1-</i>dRTA).
|
31600869 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Only one patient with an ATP6V0A4 mutation had sensorineural hearing loss during childhood.
|
28188436 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recessive form of the disease (which is usually associated with sensorineural deafness) is attributable to mutations in ATP6V1B1 or ATP6V0A4, which encode the tissue-restricted B1 and a4 subunits of the renal apical H(+)-ATPase.
|
26068435 |
2015 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
|
24564331 |
2014 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
24975934 |
2014 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ATP6V1B mutations are associated with early sensorineural hearing loss, whereas ATP6V0A4 mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing.
|
25498251 |
2014 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL.
|
24252324 |
2013 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment.
|
23065636 |
2013 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with early or late sensorineural deafness.
|
23114896 |
2012 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study confirms the association of EVA and mutations in the ATP6V1B1 gene and demonstrates that mutations in the ATP6V0A4 gene can also be associated with EVA probably only when the SNHL has an early onset.
|
19639346 |
2009 |
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, seven probands with ATP6V0A4 gene mutations developed severe early SNHL between the ages of 2 mo and 10 yr. No mutation was detected in eight families.
|
16611712 |
2006 |