A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-...

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Published inNature genetics Vol. 50; no. 3; pp. 355 - 361
Main Authors Fernandes-Rosa, Fabio L., Daniil, Georgios, Orozco, Ian J., Göppner, Corinna, El Zein, Rami, Jain, Vandana, Boulkroun, Sheerazed, Jeunemaitre, Xavier, Amar, Laurence, Lefebvre, Hervé, Schwarzmayr, Thomas, Strom, Tim M., Jentsch, Thomas J., Zennaro, Maria-Christina
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.03.2018
Nature Publishing Group
Subjects
13/109
45/23
45/90
64/60
692/699/2743/1279
692/699/75/243
Adrenal glands
Age
Agriculture
Aldosterone
Aldosterone synthase
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Biosynthesis
Cancer Research
Cardiology and cardiovascular system
Cardiovascular disease
Causes of
Channel gating
Chloride
Chloride channels
Chloride conductance
Chloride currents
Chloride ions
Conductors
Deactivation
Electric potential
Endocrine disorders
Endocrinology and metabolism
Gene Function
Gene mutation
Genes
Genetic aspects
Genetics
Glucocorticoids
Homeostasis
Human Genetics
Human health and pathology
Hyperaldosteronism
Hyperpolarization
Hypertension
Inactivation
Ion channels
Letter
Life Sciences
Mutation
Patients
Resistance
Steroids (Organic compounds)
Time dependence
Tumors
Online AccessGet full text
ISSN1061-4036
1546-1718
1546-1718
DOI10.1038/s41588-018-0053-8

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Abstract Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel 1 , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl – currents that were abolished in Clcn2 −/− mice. The p.Gly24Asp variant, located in a well-conserved ‘inactivation domain’ 2 , 3 , abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl – conductance at resting potentials. Expression of ClC-2 Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells. A gain-of-function mutation in the CLCN2 chloride channel gene (encoding ClC-2) causes primary aldosteronism. The mutation abolishes voltage-dependent gating of ClC-2, highlighting a role for chloride conduction in regulating aldosterone biosynthesis.
AbstractList Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel 1 , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl- currents that were abolished in Clcn2-/- mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain'2,3, abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl- conductance at resting potentials. Expression of ClC-2Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel 1 , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl – currents that were abolished in Clcn2 −/− mice. The p.Gly24Asp variant, located in a well-conserved ‘inactivation domain’ 2 , 3 , abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl – conductance at resting potentials. Expression of ClC-2 Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells. A gain-of-function mutation in the CLCN2 chloride channel gene (encoding ClC-2) causes primary aldosteronism. The mutation abolishes voltage-dependent gating of ClC-2, highlighting a role for chloride conduction in regulating aldosterone biosynthesis.
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel 1 , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl- currents that were abolished in Clcn2-/- mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain'2,3, abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl- conductance at resting potentials. Expression of ClC-2Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel 1 , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl- currents that were abolished in Clcn2-/- mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain'2,3, abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl- conductance at resting potentials. Expression of ClC-2Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel.sup.1, in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl.sup.- currents that were abolished in Clcn2.sup.-/- mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain'.sup.2,3, abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl.sup.- conductance at resting potentials. Expression of ClC-2.sup.Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells. A gain-of-function mutation in the CLCN2 chloride channel gene (encoding ClC-2) causes primary aldosteronism. The mutation abolishes voltage-dependent gating of ClC-2, highlighting a role for chloride conduction in regulating aldosterone biosynthesis.
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel.sup.1, in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl.sup.- currents that were abolished in Clcn2.sup.-/- mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain'.sup.2,3, abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl.sup.- conductance at resting potentials. Expression of ClC-2.sup.Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71g>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel, in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl- currents that were abolished in Clcn2-/- mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain', abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl- conductance at resting potentials. Expression of ClC-2Asp24 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl currents that were abolished in Clcn2 mice. The p.Gly24Asp variant, located in a well-conserved 'inactivation domain' , abolished the voltage- and time-dependent gating of ClC-2 and strongly increased Cl conductance at resting potentials. Expression of ClC-2 in adrenocortical cells increased expression of aldosterone synthase and aldosterone production. Our data indicate that CLCN2 mutations cause primary aldosteronism. They highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.
Audience Academic
Author Schwarzmayr, Thomas
Göppner, Corinna
Jeunemaitre, Xavier
Orozco, Ian J.
Jain, Vandana
Boulkroun, Sheerazed
Lefebvre, Hervé
Daniil, Georgios
Amar, Laurence
Fernandes-Rosa, Fabio L.
Strom, Tim M.
Jentsch, Thomas J.
El Zein, Rami
Zennaro, Maria-Christina
Author_xml – sequence: 1
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  orcidid: 0000-0002-0162-0792
  surname: Fernandes-Rosa
  fullname: Fernandes-Rosa, Fabio L.
  email: fabio.fernandes-rosa@inserm.fr
  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité, Assistance Publique–Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique
– sequence: 2
  givenname: Georgios
  surname: Daniil
  fullname: Daniil, Georgios
  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité
– sequence: 3
  givenname: Ian J.
  surname: Orozco
  fullname: Orozco, Ian J.
  organization: Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Max Delbrück Centrum für Molekulare Medizin (MDC)
– sequence: 4
  givenname: Corinna
  surname: Göppner
  fullname: Göppner, Corinna
  organization: Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Max Delbrück Centrum für Molekulare Medizin (MDC)
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  givenname: Rami
  surname: El Zein
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  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité
– sequence: 6
  givenname: Vandana
  surname: Jain
  fullname: Jain, Vandana
  organization: Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences
– sequence: 7
  givenname: Sheerazed
  surname: Boulkroun
  fullname: Boulkroun, Sheerazed
  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité
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  orcidid: 0000-0001-5925-381X
  surname: Jeunemaitre
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  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité, Assistance Publique–Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique
– sequence: 9
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  surname: Amar
  fullname: Amar, Laurence
  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité, Assistance Publique–Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Unité Hypertension Artérielle
– sequence: 10
  givenname: Hervé
  surname: Lefebvre
  fullname: Lefebvre, Hervé
  organization: Normandie Université, UNIROUEN, INSERM, DC2N, Department of Endocrinology, Diabetes and Metabolic Diseases, University Hospital of Rouen
– sequence: 11
  givenname: Thomas
  surname: Schwarzmayr
  fullname: Schwarzmayr, Thomas
  organization: Institute of Human Genetics, Helmholtz Zentrum München
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  givenname: Tim M.
  surname: Strom
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  organization: Institute of Human Genetics, Helmholtz Zentrum München, Institute of Human Genetics, Technische Universität München
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  givenname: Thomas J.
  orcidid: 0000-0002-3509-2553
  surname: Jentsch
  fullname: Jentsch, Thomas J.
  email: jentsch@fmp-berlin.de
  organization: Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Max Delbrück Centrum für Molekulare Medizin (MDC)
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  givenname: Maria-Christina
  orcidid: 0000-0001-5449-9191
  surname: Zennaro
  fullname: Zennaro, Maria-Christina
  email: maria-christina.zennaro@inserm.fr
  organization: INSERM, UMRS 970, Paris Cardiovascular Research Center, Université Paris Descartes, Sorbonne Paris Cité, Assistance Publique–Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique
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ContentType Journal Article
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– notice: COPYRIGHT 2018 Nature Publishing Group
– notice: Copyright Nature Publishing Group Mar 2018
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Snippet Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset...
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SubjectTerms 13/109
45/23
45/90
64/60
692/699/2743/1279
692/699/75/243
Adrenal glands
Age
Agriculture
Aldosterone
Aldosterone synthase
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Biosynthesis
Cancer Research
Cardiology and cardiovascular system
Cardiovascular disease
Causes of
Channel gating
Chloride
Chloride channels
Chloride conductance
Chloride currents
Chloride ions
Conductors
Deactivation
Electric potential
Endocrine disorders
Endocrinology and metabolism
Gene Function
Gene mutation
Genes
Genetic aspects
Genetics
Glucocorticoids
Homeostasis
Human Genetics
Human health and pathology
Hyperaldosteronism
Hyperpolarization
Hypertension
Inactivation
Ion channels
Letter
Life Sciences
Mutation
Patients
Resistance
Steroids (Organic compounds)
Time dependence
Tumors
Title A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
URI https://link.springer.com/article/10.1038/s41588-018-0053-8
https://www.ncbi.nlm.nih.gov/pubmed/29403012
https://www.proquest.com/docview/2197776671
https://www.proquest.com/docview/1995154751
https://inserm.hal.science/inserm-02088868
Volume 50
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