Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, Satu-Leena Sallinen, Carola Saloranta, Carol Clericuzio, Géraldine Viot, Julia Tantau, Sophie Blesson, Sylvie Cloarec, Marie Christine Machet, David Chitayat, Christelle Thauvin, Nicole Laurent, Julian R Sampson, Jonathan A Bernstein, Alix Clemenson, Fabienne Prieur, Laurent Daniel & 35 others Annie Levy-Mozziconacci, Katherine Lachlan, Jean Luc Alessandri, François Cartault, Jean Pierre Rivière, Nicole Picard, Clarisse Baumann, Anne Lise Delezoide, Maria Belar Ortega, Nicolas Chassaing, Philippe Labrune, Sui Yu, Helen Firth, Diana Wellesley, Martin Bitzan, Ahmed Alfares, Nancy Braverman, Lotte Krogh, John Tolmie, Harald Gaspar, Bérénice Doray, Silvia Majore, Dominique Bonneau, Stéphane Triau, Chantal Loirat, Albert David, Deborah Bartholdi, Amir Peleg, Damien Brackman, Rosario Stone, Ralph DeBerardinis, Pierre Corvol, Annie Michaud, Corinne Antignac, Marie Claire Gubler

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.
Original languageEnglish
JournalHuman Mutation
Volume33
Issue number2
Pages (from-to)316-26
Number of pages11
ISSN1059-7794
DOIs
Publication statusPublished - 2012

Fingerprint

Renin-Angiotensin System
Peptidyl-Dipeptidase A
Mutation
Oligohydramnios
Kidney
Angiotensin Receptors
Genetic Counseling
Prenatal Diagnosis
Renin
Osteogenesis
Fetus
Maintenance
Lung

Keywords

  • Angiotensinogen
  • Animals
  • Disease Models, Animal
  • Genes, Recessive
  • Genetic Association Studies
  • Humans
  • Kidney Tubules, Proximal
  • Mutation
  • Peptidyl-Dipeptidase A
  • Receptor, Angiotensin, Type 1
  • Renin
  • Renin-Angiotensin System
  • Urogenital Abnormalities

Cite this

Gribouval, O., Morinière, V., Pawtowski, A., Arrondel, C., Sallinen, S-L., Saloranta, C., ... Gubler, M. C. (2012). Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation, 33(2), 316-26. https://doi.org/10.1002/humu.21661
Gribouval, Olivier ; Morinière, Vincent ; Pawtowski, Audrey ; Arrondel, Christelle ; Sallinen, Satu-Leena ; Saloranta, Carola ; Clericuzio, Carol ; Viot, Géraldine ; Tantau, Julia ; Blesson, Sophie ; Cloarec, Sylvie ; Machet, Marie Christine ; Chitayat, David ; Thauvin, Christelle ; Laurent, Nicole ; Sampson, Julian R ; Bernstein, Jonathan A ; Clemenson, Alix ; Prieur, Fabienne ; Daniel, Laurent ; Levy-Mozziconacci, Annie ; Lachlan, Katherine ; Alessandri, Jean Luc ; Cartault, François ; Rivière, Jean Pierre ; Picard, Nicole ; Baumann, Clarisse ; Delezoide, Anne Lise ; Belar Ortega, Maria ; Chassaing, Nicolas ; Labrune, Philippe ; Yu, Sui ; Firth, Helen ; Wellesley, Diana ; Bitzan, Martin ; Alfares, Ahmed ; Braverman, Nancy ; Krogh, Lotte ; Tolmie, John ; Gaspar, Harald ; Doray, Bérénice ; Majore, Silvia ; Bonneau, Dominique ; Triau, Stéphane ; Loirat, Chantal ; David, Albert ; Bartholdi, Deborah ; Peleg, Amir ; Brackman, Damien ; Stone, Rosario ; DeBerardinis, Ralph ; Corvol, Pierre ; Michaud, Annie ; Antignac, Corinne ; Gubler, Marie Claire. / Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. In: Human Mutation. 2012 ; Vol. 33, No. 2. pp. 316-26.
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abstract = "Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6{\%}). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.",
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author = "Olivier Gribouval and Vincent Morini{\`e}re and Audrey Pawtowski and Christelle Arrondel and Satu-Leena Sallinen and Carola Saloranta and Carol Clericuzio and G{\'e}raldine Viot and Julia Tantau and Sophie Blesson and Sylvie Cloarec and Machet, {Marie Christine} and David Chitayat and Christelle Thauvin and Nicole Laurent and Sampson, {Julian R} and Bernstein, {Jonathan A} and Alix Clemenson and Fabienne Prieur and Laurent Daniel and Annie Levy-Mozziconacci and Katherine Lachlan and Alessandri, {Jean Luc} and Fran{\cc}ois Cartault and Rivi{\`e}re, {Jean Pierre} and Nicole Picard and Clarisse Baumann and Delezoide, {Anne Lise} and {Belar Ortega}, Maria and Nicolas Chassaing and Philippe Labrune and Sui Yu and Helen Firth and Diana Wellesley and Martin Bitzan and Ahmed Alfares and Nancy Braverman and Lotte Krogh and John Tolmie and Harald Gaspar and B{\'e}r{\'e}nice Doray and Silvia Majore and Dominique Bonneau and St{\'e}phane Triau and Chantal Loirat and Albert David and Deborah Bartholdi and Amir Peleg and Damien Brackman and Rosario Stone and Ralph DeBerardinis and Pierre Corvol and Annie Michaud and Corinne Antignac and Gubler, {Marie Claire}",
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Gribouval, O, Morinière, V, Pawtowski, A, Arrondel, C, Sallinen, S-L, Saloranta, C, Clericuzio, C, Viot, G, Tantau, J, Blesson, S, Cloarec, S, Machet, MC, Chitayat, D, Thauvin, C, Laurent, N, Sampson, JR, Bernstein, JA, Clemenson, A, Prieur, F, Daniel, L, Levy-Mozziconacci, A, Lachlan, K, Alessandri, JL, Cartault, F, Rivière, JP, Picard, N, Baumann, C, Delezoide, AL, Belar Ortega, M, Chassaing, N, Labrune, P, Yu, S, Firth, H, Wellesley, D, Bitzan, M, Alfares, A, Braverman, N, Krogh, L, Tolmie, J, Gaspar, H, Doray, B, Majore, S, Bonneau, D, Triau, S, Loirat, C, David, A, Bartholdi, D, Peleg, A, Brackman, D, Stone, R, DeBerardinis, R, Corvol, P, Michaud, A, Antignac, C & Gubler, MC 2012, 'Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis', Human Mutation, vol. 33, no. 2, pp. 316-26. https://doi.org/10.1002/humu.21661

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. / Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey; Arrondel, Christelle; Sallinen, Satu-Leena; Saloranta, Carola; Clericuzio, Carol; Viot, Géraldine; Tantau, Julia; Blesson, Sophie; Cloarec, Sylvie; Machet, Marie Christine; Chitayat, David; Thauvin, Christelle; Laurent, Nicole; Sampson, Julian R; Bernstein, Jonathan A; Clemenson, Alix; Prieur, Fabienne; Daniel, Laurent; Levy-Mozziconacci, Annie; Lachlan, Katherine; Alessandri, Jean Luc; Cartault, François; Rivière, Jean Pierre; Picard, Nicole; Baumann, Clarisse; Delezoide, Anne Lise; Belar Ortega, Maria; Chassaing, Nicolas; Labrune, Philippe; Yu, Sui; Firth, Helen; Wellesley, Diana; Bitzan, Martin; Alfares, Ahmed; Braverman, Nancy; Krogh, Lotte; Tolmie, John; Gaspar, Harald; Doray, Bérénice; Majore, Silvia; Bonneau, Dominique; Triau, Stéphane; Loirat, Chantal; David, Albert; Bartholdi, Deborah; Peleg, Amir; Brackman, Damien; Stone, Rosario; DeBerardinis, Ralph; Corvol, Pierre; Michaud, Annie; Antignac, Corinne; Gubler, Marie Claire.

In: Human Mutation, Vol. 33, No. 2, 2012, p. 316-26.

Research output: Contribution to journalJournal articleResearchpeer-review

TY - JOUR

T1 - Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

AU - Gribouval, Olivier

AU - Morinière, Vincent

AU - Pawtowski, Audrey

AU - Arrondel, Christelle

AU - Sallinen, Satu-Leena

AU - Saloranta, Carola

AU - Clericuzio, Carol

AU - Viot, Géraldine

AU - Tantau, Julia

AU - Blesson, Sophie

AU - Cloarec, Sylvie

AU - Machet, Marie Christine

AU - Chitayat, David

AU - Thauvin, Christelle

AU - Laurent, Nicole

AU - Sampson, Julian R

AU - Bernstein, Jonathan A

AU - Clemenson, Alix

AU - Prieur, Fabienne

AU - Daniel, Laurent

AU - Levy-Mozziconacci, Annie

AU - Lachlan, Katherine

AU - Alessandri, Jean Luc

AU - Cartault, François

AU - Rivière, Jean Pierre

AU - Picard, Nicole

AU - Baumann, Clarisse

AU - Delezoide, Anne Lise

AU - Belar Ortega, Maria

AU - Chassaing, Nicolas

AU - Labrune, Philippe

AU - Yu, Sui

AU - Firth, Helen

AU - Wellesley, Diana

AU - Bitzan, Martin

AU - Alfares, Ahmed

AU - Braverman, Nancy

AU - Krogh, Lotte

AU - Tolmie, John

AU - Gaspar, Harald

AU - Doray, Bérénice

AU - Majore, Silvia

AU - Bonneau, Dominique

AU - Triau, Stéphane

AU - Loirat, Chantal

AU - David, Albert

AU - Bartholdi, Deborah

AU - Peleg, Amir

AU - Brackman, Damien

AU - Stone, Rosario

AU - DeBerardinis, Ralph

AU - Corvol, Pierre

AU - Michaud, Annie

AU - Antignac, Corinne

AU - Gubler, Marie Claire

N1 - © 2011 Wiley Periodicals, Inc.

PY - 2012

Y1 - 2012

N2 - Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.

AB - Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.

KW - Angiotensinogen

KW - Animals

KW - Disease Models, Animal

KW - Genes, Recessive

KW - Genetic Association Studies

KW - Humans

KW - Kidney Tubules, Proximal

KW - Mutation

KW - Peptidyl-Dipeptidase A

KW - Receptor, Angiotensin, Type 1

KW - Renin

KW - Renin-Angiotensin System

KW - Urogenital Abnormalities

U2 - 10.1002/humu.21661

DO - 10.1002/humu.21661

M3 - Journal article

VL - 33

SP - 316

EP - 326

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 2

ER -

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen S-L, Saloranta C et al. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation. 2012;33(2):316-26. https://doi.org/10.1002/humu.21661