Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
Identifieur interne : 004400 ( Main/Exploration ); précédent : 004399; suivant : 004401Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
Auteurs : Philippe M. Campeau [États-Unis] ; Guy M. Lenk [États-Unis] ; James T. Lu [États-Unis] ; Yangjin Bae [États-Unis] ; Lindsay Burrage [États-Unis] ; Peter Turnpenny [Royaume-Uni] ; Jorge Román Corona-Rivera [Mexique] ; Lucia Morandi [Italie] ; Marina Mora [Italie] ; Heiko Reutter [Allemagne] ; Anneke T. Vulto-Van Silfhout [Pays-Bas] ; Laurence Faivre [France] ; Eric Haan [Australie] ; Richard A. Gibbs [États-Unis] ; Miriam H. Meisler [États-Unis] ; Brendan H. Lee [États-Unis]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2013.
Abstract
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of
Url:
DOI: 10.1016/j.ajhg.2013.03.020
PubMed: 23623387
PubMed Central: 3644641
Affiliations:
- Allemagne, Australie, France, Italie, Mexique, Pays-Bas, Royaume-Uni, États-Unis
- District de Cologne, Gueldre, Michigan, Rhénanie-du-Nord-Westphalie, Région Bourgogne, Texas
- Bonn, Dijon, Nimègue
- Université de Bourgogne
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Le document en format XML
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, Encoding a Phosphoinositide Phosphatase</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Yunis-Varón Syndrome Is Caused by Mutations in <italic>FIG4</italic>
, Encoding a Phosphoinositide Phosphatase</title>
<author><name sortKey="Campeau, Philippe M" sort="Campeau, Philippe M" uniqKey="Campeau P" first="Philippe M." last="Campeau">Philippe M. Campeau</name>
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<orgName type="university">Université de Bourgogne</orgName>
<placeName><settlement type="city">Dijon</settlement>
<region type="region" nuts="2">Région Bourgogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">South Australian Clinical Genetics Service, SA Pathology at Women’s and Children’s Hospital, and Discipline of Paediatrics, The University of Adelaide, Adelaide 5006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>South Australian Clinical Genetics Service, SA Pathology at Women’s and Children’s Hospital, and Discipline of Paediatrics, The University of Adelaide, Adelaide 5006</wicri:regionArea>
<wicri:noRegion>Adelaide 5006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gibbs, Richard A" sort="Gibbs, Richard A" uniqKey="Gibbs R" first="Richard A." last="Gibbs">Richard A. Gibbs</name>
<affiliation wicri:level="2"><nlm:aff id="aff3">Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meisler, Miriam H" sort="Meisler, Miriam H" uniqKey="Meisler M" first="Miriam H." last="Meisler">Miriam H. Meisler</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lee, Brendan H" sort="Lee, Brendan H" uniqKey="Lee B" first="Brendan H." last="Lee">Brendan H. Lee</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff14">Howard Hughes Medical Institute, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Houston, TX 77030</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of <italic>FIG4</italic>
in affected individuals from three unrelated families. <italic>FIG4</italic>
encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P<sub>2</sub>
levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of <italic>Fig4</italic>
-null mouse fibroblasts. Homozygous <italic>Fig4</italic>
-null mice exhibit features of YVS, including neurodegeneration and enlarged vacuoles in neurons. We demonstrate that <italic>Fig4</italic>
-null mice also have small skeletons with reduced trabecular bone volume and cortical thickness and that cultured osteoblasts accumulate large vacuoles. Our findings demonstrate that homozygosity or compound heterozygosity for null mutations of <italic>FIG4</italic>
is responsible for YVS, the most severe known human phenotype caused by defective phosphoinositide metabolism. In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by <italic>FIG4</italic>
mutations), one of the <italic>FIG4</italic>
alleles is hypomorphic and disease is limited to the peripheral nervous system. This genotype-phenotype correlation demonstrates that absence of FIG4 activity leads to central nervous system dysfunction and extensive skeletal anomalies. Our results describe a role for PI(3,5)P<sub>2</sub>
signaling in skeletal development and maintenance.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Italie</li>
<li>Mexique</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>District de Cologne</li>
<li>Gueldre</li>
<li>Michigan</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Région Bourgogne</li>
<li>Texas</li>
</region>
<settlement><li>Bonn</li>
<li>Dijon</li>
<li>Nimègue</li>
</settlement>
<orgName><li>Université de Bourgogne</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Texas"><name sortKey="Campeau, Philippe M" sort="Campeau, Philippe M" uniqKey="Campeau P" first="Philippe M." last="Campeau">Philippe M. Campeau</name>
</region>
<name sortKey="Bae, Yangjin" sort="Bae, Yangjin" uniqKey="Bae Y" first="Yangjin" last="Bae">Yangjin Bae</name>
<name sortKey="Burrage, Lindsay" sort="Burrage, Lindsay" uniqKey="Burrage L" first="Lindsay" last="Burrage">Lindsay Burrage</name>
<name sortKey="Gibbs, Richard A" sort="Gibbs, Richard A" uniqKey="Gibbs R" first="Richard A." last="Gibbs">Richard A. Gibbs</name>
<name sortKey="Lee, Brendan H" sort="Lee, Brendan H" uniqKey="Lee B" first="Brendan H." last="Lee">Brendan H. Lee</name>
<name sortKey="Lee, Brendan H" sort="Lee, Brendan H" uniqKey="Lee B" first="Brendan H." last="Lee">Brendan H. Lee</name>
<name sortKey="Lenk, Guy M" sort="Lenk, Guy M" uniqKey="Lenk G" first="Guy M." last="Lenk">Guy M. Lenk</name>
<name sortKey="Lu, James T" sort="Lu, James T" uniqKey="Lu J" first="James T." last="Lu">James T. Lu</name>
<name sortKey="Lu, James T" sort="Lu, James T" uniqKey="Lu J" first="James T." last="Lu">James T. Lu</name>
<name sortKey="Meisler, Miriam H" sort="Meisler, Miriam H" uniqKey="Meisler M" first="Miriam H." last="Meisler">Miriam H. Meisler</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Turnpenny, Peter" sort="Turnpenny, Peter" uniqKey="Turnpenny P" first="Peter" last="Turnpenny">Peter Turnpenny</name>
</noRegion>
</country>
<country name="Mexique"><noRegion><name sortKey="Roman Corona Rivera, Jorge" sort="Roman Corona Rivera, Jorge" uniqKey="Roman Corona Rivera J" first="Jorge" last="Román Corona-Rivera">Jorge Román Corona-Rivera</name>
</noRegion>
<name sortKey="Roman Corona Rivera, Jorge" sort="Roman Corona Rivera, Jorge" uniqKey="Roman Corona Rivera J" first="Jorge" last="Román Corona-Rivera">Jorge Román Corona-Rivera</name>
</country>
<country name="Italie"><noRegion><name sortKey="Morandi, Lucia" sort="Morandi, Lucia" uniqKey="Morandi L" first="Lucia" last="Morandi">Lucia Morandi</name>
</noRegion>
<name sortKey="Mora, Marina" sort="Mora, Marina" uniqKey="Mora M" first="Marina" last="Mora">Marina Mora</name>
</country>
<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name>
</region>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Vulto Van Silfhout, Anneke T" sort="Vulto Van Silfhout, Anneke T" uniqKey="Vulto Van Silfhout A" first="Anneke T." last="Vulto-Van Silfhout">Anneke T. Vulto-Van Silfhout</name>
</region>
</country>
<country name="France"><noRegion><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
</noRegion>
<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
</country>
<country name="Australie"><noRegion><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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