AustralieFrV1, PubMed, Checkpoint, bibRecord, 003454

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Identifieur interne : 003454 ( PubMed/Checkpoint ); précédent : 003453; suivant : 003455

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Auteurs : Camille Humbert [France] ; Flora Silbermann [France] ; Bharti Morar [Australie] ; Mélanie Parisot [France] ; Mohammed Zarhrate [France] ; Cécile Masson [France] ; Frédéric Tores [France] ; Patricia Blanchet [France] ; Marie-José Perez [France] ; Yuliya Petrov [France] ; Philippe Khau Van Kien [France] ; Joelle Roume [France] ; Brigitte Leroy [France] ; Olivier Gribouval [France] ; Luba Kalaydjieva [Australie] ; Laurence Heidet [France] ; Rémi Salomon [France] ; Corinne Antignac [France] ; Alexandre Benmerah [France] ; Sophie Saunier [France] ; Cécile Jeanpierre [France]

Source :

American journal of human genetics [ 1537-6605 ] ; 2014.

RBID : pubmed:24439109

Descripteurs français

KwdFr :
- Femelle, Foetus (malformations), Gènes récessifs, Homozygote, Humains, Intégrines alpha (génétique), Intégrines alpha (métabolisme), Maladies du rein (), Maladies du rein (anatomopathologie), Maladies du rein (génétique), Malformations (anatomopathologie), Malformations (génétique), Malformations urogénitales (anatomopathologie), Malformations urogénitales (génétique), Mutation, Mâle, Pedigree, Rein (anatomopathologie), Rein (malformations).
MESH :
- anatomopathologie : Maladies du rein, Malformations, Malformations urogénitales, Rein.
- génétique : Intégrines alpha, Maladies du rein, Malformations, Malformations urogénitales.
- malformations : Foetus, Rein.
- métabolisme : Intégrines alpha.
- Femelle, Gènes récessifs, Homozygote, Humains, Maladies du rein, Mutation, Mâle, Pedigree.

English descriptors

KwdEn :
- Congenital Abnormalities (genetics), Congenital Abnormalities (pathology), Female, Fetus (abnormalities), Genes, Recessive, Homozygote, Humans, Integrin alpha Chains (genetics), Integrin alpha Chains (metabolism), Kidney (abnormalities), Kidney (pathology), Kidney Diseases (congenital), Kidney Diseases (genetics), Kidney Diseases (pathology), Male, Mutation, Pedigree, Urogenital Abnormalities (genetics), Urogenital Abnormalities (pathology).
MESH :
- chemical , genetics : Integrin alpha Chains.
- abnormalities : Fetus, Kidney.
- congenital : Kidney Diseases.
- genetics : Congenital Abnormalities, Kidney Diseases, Urogenital Abnormalities.
- chemical , metabolism : Integrin alpha Chains.
- pathology : Congenital Abnormalities, Kidney, Kidney Diseases, Urogenital Abnormalities.
- Female, Genes, Recessive, Homozygote, Humans, Male, Mutation, Pedigree.

Abstract

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.

DOI: 10.1016/j.ajhg.2013.12.017
PubMed: 24439109

Affiliations:

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en">Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.</title>
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<author><name sortKey="Tores, Frederic" sort="Tores, Frederic" uniqKey="Tores F" first="Frédéric" last="Tores">Frédéric Tores</name>
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<author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name>
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<author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name>
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<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
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<author><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name>
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<author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
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<author><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name>
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<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea>
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<series><title level="j">American journal of human genetics</title>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2014" type="published">2014</date>
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<term>Female</term>
<term>Fetus (abnormalities)</term>
<term>Genes, Recessive</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Integrin alpha Chains (genetics)</term>
<term>Integrin alpha Chains (metabolism)</term>
<term>Kidney (abnormalities)</term>
<term>Kidney (pathology)</term>
<term>Kidney Diseases (congenital)</term>
<term>Kidney Diseases (genetics)</term>
<term>Kidney Diseases (pathology)</term>
<term>Male</term>
<term>Mutation</term>
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<term>Urogenital Abnormalities (pathology)</term>
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<term>Homozygote</term>
<term>Humains</term>
<term>Intégrines alpha (génétique)</term>
<term>Intégrines alpha (métabolisme)</term>
<term>Maladies du rein ()</term>
<term>Maladies du rein (anatomopathologie)</term>
<term>Maladies du rein (génétique)</term>
<term>Malformations (anatomopathologie)</term>
<term>Malformations (génétique)</term>
<term>Malformations urogénitales (anatomopathologie)</term>
<term>Malformations urogénitales (génétique)</term>
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<front><div type="abstract" xml:lang="en">Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.</div>
</front>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24439109</PMID>
<DateCreated><Year>2014</Year>
<Month>02</Month>
<Day>10</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>03</Month>
<Day>31</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>02</Month>
<Day>20</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>94</Volume>
<Issue>2</Issue>
<PubDate><Year>2014</Year>
<Month>Feb</Month>
<Day>06</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.</ArticleTitle>
<Pagination><MedlinePgn>288-94</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2013.12.017</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(13)00614-9</ELocationID>
<Abstract><AbstractText>Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.</AbstractText>
<CopyrightInformation>Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Humbert</LastName>
<ForeName>Camille</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Silbermann</LastName>
<ForeName>Flora</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Morar</LastName>
<ForeName>Bharti</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia.</Affiliation>
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<Month>01</Month>
<Day>16</Day>
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

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