AustralieFrV1, Main, Exploration, bibRecord, 009827

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Identifieur interne : 009827 ( Main/Exploration ); précédent : 009826; suivant : 009828

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Auteurs : Catherine Dodé [France] ; Luis Teixeira [France] ; Jacqueline Levilliers [France] ; Corinne Fouveaut [France] ; Philippe Bouchard [France] ; Marie-Laure Kottler [France] ; James Lespinasse [France] ; Anne Lienhardt-Roussie [France] ; Michèle Mathieu [France] ; Alexandre Moerman [France] ; Graeme Morgan [Australie] ; Arnaud Murat [France] ; Jean-Edmont Toublanc [France] ; Slawomir Wolczynski [Pologne] ; Marc Delpech [France] ; Christine Petit [France] ; Jacques Young [France] ; Jean-Pierre Hardelin [France]

Source :

PLoS Genetics [ 1553-7390 ] ; 2006.

RBID : PMC:1617130

Abstract

Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mutations in these genes, however, only account for approximately 20% of all Kallmann syndrome cases. In a cohort of 192 patients we took a candidate gene strategy and identified ten and four different point mutations in the genes encoding the G protein-coupled prokineticin receptor-2 (PROKR2) and one of its ligands, prokineticin-2 (PROK2), respectively. The mutations in PROK2 were detected in the heterozygous state, whereas PROKR2 mutations were found in the heterozygous, homozygous, or compound heterozygous state. In addition, one of the patients heterozygous for a PROKR2 mutation was also carrying a missense mutation in KAL1, thus indicating a possible digenic inheritance of the disease in this individual. These findings reveal that insufficient prokineticin-signaling through PROKR2 leads to abnormal development of the olfactory system and reproductive axis in man. They also shed new light on the complex genetic transmission of Kallmann syndrome.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1617130

DOI: 10.1371/journal.pgen.0020175
PubMed: 17054399
PubMed Central: 1617130

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2 </title>
<author><name sortKey="Dode, Catherine" sort="Dode, Catherine" uniqKey="Dode C" first="Catherine" last="Dodé">Catherine Dodé</name>
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<author><name sortKey="Teixeira, Luis" sort="Teixeira, Luis" uniqKey="Teixeira L" first="Luis" last="Teixeira">Luis Teixeira</name>
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<author><name sortKey="Bouchard, Philippe" sort="Bouchard, Philippe" uniqKey="Bouchard P" first="Philippe" last="Bouchard">Philippe Bouchard</name>
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<author><name sortKey="Kottler, Marie Laure" sort="Kottler, Marie Laure" uniqKey="Kottler M" first="Marie-Laure" last="Kottler">Marie-Laure Kottler</name>
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<author><name sortKey="Lespinasse, James" sort="Lespinasse, James" uniqKey="Lespinasse J" first="James" last="Lespinasse">James Lespinasse</name>
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<author><name sortKey="Lienhardt Roussie, Anne" sort="Lienhardt Roussie, Anne" uniqKey="Lienhardt Roussie A" first="Anne" last="Lienhardt-Roussie">Anne Lienhardt-Roussie</name>
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<author><name sortKey="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michèle" last="Mathieu">Michèle Mathieu</name>
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<author><name sortKey="Moerman, Alexandre" sort="Moerman, Alexandre" uniqKey="Moerman A" first="Alexandre" last="Moerman">Alexandre Moerman</name>
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<author><name sortKey="Morgan, Graeme" sort="Morgan, Graeme" uniqKey="Morgan G" first="Graeme" last="Morgan">Graeme Morgan</name>
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<author><name sortKey="Murat, Arnaud" sort="Murat, Arnaud" uniqKey="Murat A" first="Arnaud" last="Murat">Arnaud Murat</name>
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<wicri:regionArea>Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel-Dieu, Nantes</wicri:regionArea>
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</placeName>
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<author><name sortKey="Toublanc, Jean Edmont" sort="Toublanc, Jean Edmont" uniqKey="Toublanc J" first="Jean-Edmont" last="Toublanc">Jean-Edmont Toublanc</name>
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</author>
<author><name sortKey="Wolczynski, Slawomir" sort="Wolczynski, Slawomir" uniqKey="Wolczynski S" first="Slawomir" last="Wolczynski">Slawomir Wolczynski</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Department of Reproduction and Gynecological Endocrinology, Bialystok, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Reproduction and Gynecological Endocrinology, Bialystok</wicri:regionArea>
<wicri:noRegion>Bialystok</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Delpech, Marc" sort="Delpech, Marc" uniqKey="Delpech M" first="Marc" last="Delpech">Marc Delpech</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institut Cochin, INSERM U567, Université René Descartes, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut Cochin, INSERM U567, Université René Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name>
<affiliation wicri:level="3"><nlm:aff id="aff2">Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Young, Jacques" sort="Young, Jacques" uniqKey="Young J" first="Jacques" last="Young">Jacques Young</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Service d'Endocrinologie, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d'Endocrinologie, Hôpital de Bicêtre, Le Kremlin-Bicêtre</wicri:regionArea>
<wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion>
<wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hardelin, Jean Pierre" sort="Hardelin, Jean Pierre" uniqKey="Hardelin J" first="Jean-Pierre" last="Hardelin">Jean-Pierre Hardelin</name>
<affiliation wicri:level="3"><nlm:aff id="aff2">Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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</author>
</analytic>
<series><title level="j">PLoS Genetics</title>
<idno type="ISSN">1553-7390</idno>
<idno type="eISSN">1553-7404</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en"><p>Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in <italic>KAL1</italic>
 and <italic>FGFR1</italic>
 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mutations in these genes, however, only account for approximately 20% of all Kallmann syndrome cases. In a cohort of 192 patients we took a candidate gene strategy and identified ten and four different point mutations in the genes encoding the G protein-coupled prokineticin receptor-2 <italic>(PROKR2)</italic>
 and one of its ligands, prokineticin-2 <italic>(PROK2),</italic>
 respectively. The mutations in <italic>PROK2</italic>
 were detected in the heterozygous state, whereas <italic>PROKR2</italic>
 mutations were found in the heterozygous, homozygous, or compound heterozygous state. In addition, one of the patients heterozygous for a <italic>PROKR2</italic>
 mutation was also carrying a missense mutation in <italic>KAL1,</italic>
 thus indicating a possible digenic inheritance of the disease in this individual. These findings reveal that insufficient prokineticin-signaling through PROKR2 leads to abnormal development of the olfactory system and reproductive axis in man. They also shed new light on the complex genetic transmission of Kallmann syndrome.</p>
</div>
</front>
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</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Pologne</li>
</country>
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<li>Basse-Normandie</li>
<li>Hauts-de-France</li>
<li>Limousin</li>
<li>Nord-Pas-de-Calais</li>
<li>Nouvelle-Aquitaine</li>
<li>Nouvelle-Galles du Sud</li>
<li>Pays de la Loire</li>
<li>Picardie</li>
<li>Rhône-Alpes</li>
<li>Région Normandie</li>
<li>Île-de-France</li>
</region>
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<li>Caen</li>
<li>Chambéry</li>
<li>Lille</li>
<li>Limoges</li>
<li>Nantes</li>
<li>Paris</li>
<li>Sydney</li>
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<tree><country name="France"><region name="Île-de-France"><name sortKey="Dode, Catherine" sort="Dode, Catherine" uniqKey="Dode C" first="Catherine" last="Dodé">Catherine Dodé</name>
</region>
<name sortKey="Bouchard, Philippe" sort="Bouchard, Philippe" uniqKey="Bouchard P" first="Philippe" last="Bouchard">Philippe Bouchard</name>
<name sortKey="Delpech, Marc" sort="Delpech, Marc" uniqKey="Delpech M" first="Marc" last="Delpech">Marc Delpech</name>
<name sortKey="Fouveaut, Corinne" sort="Fouveaut, Corinne" uniqKey="Fouveaut C" first="Corinne" last="Fouveaut">Corinne Fouveaut</name>
<name sortKey="Hardelin, Jean Pierre" sort="Hardelin, Jean Pierre" uniqKey="Hardelin J" first="Jean-Pierre" last="Hardelin">Jean-Pierre Hardelin</name>
<name sortKey="Kottler, Marie Laure" sort="Kottler, Marie Laure" uniqKey="Kottler M" first="Marie-Laure" last="Kottler">Marie-Laure Kottler</name>
<name sortKey="Lespinasse, James" sort="Lespinasse, James" uniqKey="Lespinasse J" first="James" last="Lespinasse">James Lespinasse</name>
<name sortKey="Levilliers, Jacqueline" sort="Levilliers, Jacqueline" uniqKey="Levilliers J" first="Jacqueline" last="Levilliers">Jacqueline Levilliers</name>
<name sortKey="Lienhardt Roussie, Anne" sort="Lienhardt Roussie, Anne" uniqKey="Lienhardt Roussie A" first="Anne" last="Lienhardt-Roussie">Anne Lienhardt-Roussie</name>
<name sortKey="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michèle" last="Mathieu">Michèle Mathieu</name>
<name sortKey="Moerman, Alexandre" sort="Moerman, Alexandre" uniqKey="Moerman A" first="Alexandre" last="Moerman">Alexandre Moerman</name>
<name sortKey="Murat, Arnaud" sort="Murat, Arnaud" uniqKey="Murat A" first="Arnaud" last="Murat">Arnaud Murat</name>
<name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name>
<name sortKey="Teixeira, Luis" sort="Teixeira, Luis" uniqKey="Teixeira L" first="Luis" last="Teixeira">Luis Teixeira</name>
<name sortKey="Toublanc, Jean Edmont" sort="Toublanc, Jean Edmont" uniqKey="Toublanc J" first="Jean-Edmont" last="Toublanc">Jean-Edmont Toublanc</name>
<name sortKey="Young, Jacques" sort="Young, Jacques" uniqKey="Young J" first="Jacques" last="Young">Jacques Young</name>
</country>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Morgan, Graeme" sort="Morgan, Graeme" uniqKey="Morgan G" first="Graeme" last="Morgan">Graeme Morgan</name>
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<country name="Pologne"><noRegion><name sortKey="Wolczynski, Slawomir" sort="Wolczynski, Slawomir" uniqKey="Wolczynski S" first="Slawomir" last="Wolczynski">Slawomir Wolczynski</name>
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{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:1617130
   |texte=   Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2 
}}

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Serveur d'exploration sur les relations entre la France et l'Australie

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur les relations entre la France et l'Australie
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