Table · dataset · 2025
Identification of novel pathogenic mutations in <i>ATP6V0A4</i> associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease
Listed in HKU DataHub and figshare and Loughborough Research Repository — shown once because both records carry DOI 10.6084/m9.figshare.29857255.v2
<p>Distal renal tubular acidosis (dRTA) is a rare renal disorder caused by genetic mutations or secondary factors.
Description
If untreated, it can result in a significant electrolyte imbalance and progressive chronic kidney disease (CKD). This study investigated the key genes involved in renal tubular acid-base regulation (<i>SLC4A1</i>, <i>ATP6V1B1</i> and <i>ATP6V0A4</i>) through whole exome sequencing (WES) in a clinical cohort.
Notably, patients with <i>ATP6V0A4</i> mutations were diagnosed at a younger age (mean 0.5 years) and exhibited more severe renal impairment, including reduced estimated glomerular filtration rate (eGFR), indicating heightened susceptibility to kidney damage. We identified novel <i>ATP6V0A4</i> mutations (c.2219C > T, c.197-1G > C, and c.2293_c.2296del AGCG) and confirmed their pathogenicity using bioinformatics and <i>in vitro</i> experiments.
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We demonstrated that the c.197-1G > C mutation disrupted mRNA splicing, causing exon 5 skipping and introducing a premature termination codon, c.2293_c.2296del AGCG introduced a premature termination codon, while c.2219C > T impaired protein expression, intracellular pH regulation, and ATPase activity. Additionally, ATP6V0A4 expression decreases during diabetes progression, contributing to tubular dysfunction and the development of diabetic kidney disease (DKD).
These findings underscore the crucial role of ATP6V0A4 in maintaining renal acid-base balance, its influence on CKD progression, and the importance of genetic analysis for the early diagnosis and personalized management of dRTA.</p>
Links
Where it is published
- DOI doi.org/10.6084/m9.figshare.29857255.v2 ↗
DOI / persistent id · from datahub hku hk
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from datahub hku hk
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Economics & Finance · Economics & Finance · Engineering · Engineering · Genetics · Genetics · Genetics · Humanities · Humanities · Life Sciences · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Medicine & Health · Medicine & Health · Medicine & Health · Ocean & Atmospheric Science · Ocean & Atmospheric Science · Ocean & Atmospheric Science · Psychology & Behavioral Science · Social Science · Social Science
- Inferred from text
- Disease 75% · Sequencing 75%
Provenance · 3 source records, 38 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| HKU DataHub | oai:figshare.com:article/29857255 | 10 d ago | JSON v1 |
| figshare | oai:figshare.com:article/29857255 | 9 d ago | JSON v1 |
| Loughborough Research Repository | oai:figshare.com:article/29857255 | 9 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · datahub hku hk | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:group:3105 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:materials-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · datahub hku hk | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | /metadata/dc/description |
| license | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | /metadata/dc/rights |
| publication_date | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| title | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | /metadata/dc/title |