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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. / Jobst-Schwan, Tilman; Klämbt, Verena; Tarsio, Maureen; Heneghan, John F; Majmundar, Amar J; Shril, Shirlee; Buerger, Florian; Ottlewski, Isabel; Shmukler, Boris E; Topaloglu, Rezan; Hashmi, Seema; Hafeez, Farkhanda; Emma, Francesco; Greco, Marcella; Laube, Guido F; Fathy, Hanan M; Pohl, Martin; Gellermann, Jutta; Milosevic, Danko; Baum, Michelle A; Mane, Shrikant; Lifton, Richard P; Kane, Patricia M; Alper, Seth L; Hildebrandt, Friedhelm.

in: KIDNEY INT, Jahrgang 97, Nr. 3, 03.2020, S. 567-579.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Jobst-Schwan, T, Klämbt, V, Tarsio, M, Heneghan, JF, Majmundar, AJ, Shril, S, Buerger, F, Ottlewski, I, Shmukler, BE, Topaloglu, R, Hashmi, S, Hafeez, F, Emma, F, Greco, M, Laube, GF, Fathy, HM, Pohl, M, Gellermann, J, Milosevic, D, Baum, MA, Mane, S, Lifton, RP, Kane, PM, Alper, SL & Hildebrandt, F 2020, 'Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis', KIDNEY INT, Jg. 97, Nr. 3, S. 567-579. https://doi.org/10.1016/j.kint.2019.09.026

APA

Jobst-Schwan, T., Klämbt, V., Tarsio, M., Heneghan, J. F., Majmundar, A. J., Shril, S., Buerger, F., Ottlewski, I., Shmukler, B. E., Topaloglu, R., Hashmi, S., Hafeez, F., Emma, F., Greco, M., Laube, G. F., Fathy, H. M., Pohl, M., Gellermann, J., Milosevic, D., ... Hildebrandt, F. (2020). Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. KIDNEY INT, 97(3), 567-579. https://doi.org/10.1016/j.kint.2019.09.026

Vancouver

Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S et al. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. KIDNEY INT. 2020 Mär;97(3):567-579. https://doi.org/10.1016/j.kint.2019.09.026

Bibtex

@article{9fb6344b1f1e4f598e1ab146665cd67b,
title = "Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis",
abstract = "Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70% of familial cases of distal renal tubular acidosis. Recently, mutations in FOXI1 have been identified as an additional cause. Therefore, we hypothesized that further monogenic causes of distal renal tubular acidosis remain to be discovered. Panel sequencing and/or whole exome sequencing was performed in a cohort of 17 families with 19 affected individuals with pediatric onset distal renal tubular acidosis. A causative mutation was detected in one of the three {"}classical{"} known distal renal tubular acidosis genes in 10 of 17 families. The seven unsolved families were then subjected to candidate whole exome sequencing analysis. Potential disease causing mutations in three genes were detected: ATP6V1C2, which encodes another kidney specific subunit of the V-type proton ATPase (1 family); WDR72 (2 families), previously implicated in V-ATPase trafficking in cells; and SLC4A2 (1 family), a paralog of the known distal renal tubular acidosis gene SLC4A1. Two of these mutations were assessed for deleteriousness through functional studies. Yeast growth assays for ATP6V1C2 revealed loss-of-function for the patient mutation, strongly supporting ATP6V1C2 as a novel distal renal tubular acidosis gene. Thus, we provided a molecular diagnosis in a known distal renal tubular acidosis gene in 10 of 17 families (59%) with this disease, identified mutations in ATP6V1C2 as a novel human candidate gene, and provided further evidence for phenotypic expansion in WDR72 mutations from amelogenesis imperfecta to distal renal tubular acidosis.",
keywords = "Acidosis, Renal Tubular/genetics, Anion Exchange Protein 1, Erythrocyte, Child, Chloride-Bicarbonate Antiporters, DNA Mutational Analysis, Forkhead Transcription Factors, Humans, Mutation, Vacuolar Proton-Translocating ATPases/genetics, Exome Sequencing",
author = "Tilman Jobst-Schwan and Verena Kl{\"a}mbt and Maureen Tarsio and Heneghan, {John F} and Majmundar, {Amar J} and Shirlee Shril and Florian Buerger and Isabel Ottlewski and Shmukler, {Boris E} and Rezan Topaloglu and Seema Hashmi and Farkhanda Hafeez and Francesco Emma and Marcella Greco and Laube, {Guido F} and Fathy, {Hanan M} and Martin Pohl and Jutta Gellermann and Danko Milosevic and Baum, {Michelle A} and Shrikant Mane and Lifton, {Richard P} and Kane, {Patricia M} and Alper, {Seth L} and Friedhelm Hildebrandt",
note = "Copyright {\textcopyright} 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.",
year = "2020",
month = mar,
doi = "10.1016/j.kint.2019.09.026",
language = "English",
volume = "97",
pages = "567--579",
journal = "KIDNEY INT",
issn = "0085-2538",
publisher = "NATURE PUBLISHING GROUP",
number = "3",

}

RIS

TY - JOUR

T1 - Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

AU - Jobst-Schwan, Tilman

AU - Klämbt, Verena

AU - Tarsio, Maureen

AU - Heneghan, John F

AU - Majmundar, Amar J

AU - Shril, Shirlee

AU - Buerger, Florian

AU - Ottlewski, Isabel

AU - Shmukler, Boris E

AU - Topaloglu, Rezan

AU - Hashmi, Seema

AU - Hafeez, Farkhanda

AU - Emma, Francesco

AU - Greco, Marcella

AU - Laube, Guido F

AU - Fathy, Hanan M

AU - Pohl, Martin

AU - Gellermann, Jutta

AU - Milosevic, Danko

AU - Baum, Michelle A

AU - Mane, Shrikant

AU - Lifton, Richard P

AU - Kane, Patricia M

AU - Alper, Seth L

AU - Hildebrandt, Friedhelm

N1 - Copyright © 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

PY - 2020/3

Y1 - 2020/3

N2 - Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70% of familial cases of distal renal tubular acidosis. Recently, mutations in FOXI1 have been identified as an additional cause. Therefore, we hypothesized that further monogenic causes of distal renal tubular acidosis remain to be discovered. Panel sequencing and/or whole exome sequencing was performed in a cohort of 17 families with 19 affected individuals with pediatric onset distal renal tubular acidosis. A causative mutation was detected in one of the three "classical" known distal renal tubular acidosis genes in 10 of 17 families. The seven unsolved families were then subjected to candidate whole exome sequencing analysis. Potential disease causing mutations in three genes were detected: ATP6V1C2, which encodes another kidney specific subunit of the V-type proton ATPase (1 family); WDR72 (2 families), previously implicated in V-ATPase trafficking in cells; and SLC4A2 (1 family), a paralog of the known distal renal tubular acidosis gene SLC4A1. Two of these mutations were assessed for deleteriousness through functional studies. Yeast growth assays for ATP6V1C2 revealed loss-of-function for the patient mutation, strongly supporting ATP6V1C2 as a novel distal renal tubular acidosis gene. Thus, we provided a molecular diagnosis in a known distal renal tubular acidosis gene in 10 of 17 families (59%) with this disease, identified mutations in ATP6V1C2 as a novel human candidate gene, and provided further evidence for phenotypic expansion in WDR72 mutations from amelogenesis imperfecta to distal renal tubular acidosis.

AB - Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70% of familial cases of distal renal tubular acidosis. Recently, mutations in FOXI1 have been identified as an additional cause. Therefore, we hypothesized that further monogenic causes of distal renal tubular acidosis remain to be discovered. Panel sequencing and/or whole exome sequencing was performed in a cohort of 17 families with 19 affected individuals with pediatric onset distal renal tubular acidosis. A causative mutation was detected in one of the three "classical" known distal renal tubular acidosis genes in 10 of 17 families. The seven unsolved families were then subjected to candidate whole exome sequencing analysis. Potential disease causing mutations in three genes were detected: ATP6V1C2, which encodes another kidney specific subunit of the V-type proton ATPase (1 family); WDR72 (2 families), previously implicated in V-ATPase trafficking in cells; and SLC4A2 (1 family), a paralog of the known distal renal tubular acidosis gene SLC4A1. Two of these mutations were assessed for deleteriousness through functional studies. Yeast growth assays for ATP6V1C2 revealed loss-of-function for the patient mutation, strongly supporting ATP6V1C2 as a novel distal renal tubular acidosis gene. Thus, we provided a molecular diagnosis in a known distal renal tubular acidosis gene in 10 of 17 families (59%) with this disease, identified mutations in ATP6V1C2 as a novel human candidate gene, and provided further evidence for phenotypic expansion in WDR72 mutations from amelogenesis imperfecta to distal renal tubular acidosis.

KW - Acidosis, Renal Tubular/genetics

KW - Anion Exchange Protein 1, Erythrocyte

KW - Child

KW - Chloride-Bicarbonate Antiporters

KW - DNA Mutational Analysis

KW - Forkhead Transcription Factors

KW - Humans

KW - Mutation

KW - Vacuolar Proton-Translocating ATPases/genetics

KW - Exome Sequencing

U2 - 10.1016/j.kint.2019.09.026

DO - 10.1016/j.kint.2019.09.026

M3 - SCORING: Journal article

C2 - 31959358

VL - 97

SP - 567

EP - 579

JO - KIDNEY INT

JF - KIDNEY INT

SN - 0085-2538

IS - 3

ER -