Phelan McDermid syndrome: from genetic discoveries to animal models and treatments
Identifieur interne : 001996 ( Main/Exploration ); précédent : 001995; suivant : 001997Phelan McDermid syndrome: from genetic discoveries to animal models and treatments
Auteurs : Hala Harony-Nicolas [États-Unis] ; Silvia De Rubeis [États-Unis] ; Joseph D. Buxbaum [États-Unis]Source :
- Journal of child neurology [ 0883-0738 ] ; 2015.
Abstract
Phelan McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent medical comorbidities. In most cases, individuals with PMS have terminal deletions of the chromosomal region 22q13.3 encompassing
Here, we review the clinical aspects of the syndrome and the genetic findings shedding light onto the underlying etiology. We also provide an overview on the evidence from genetic studies and mouse models that supports
Url:
DOI: 10.1177/0883073815600872
PubMed: 26350728
PubMed Central: 5321557
Affiliations:
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last="Harony-Nicolas">Hala Harony-Nicolas</name><affiliation wicri:level="2"><nlm:aff id="A1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="De Rubeis, Silvia" sort="De Rubeis, Silvia" uniqKey="De Rubeis S" first="Silvia" last="De Rubeis">Silvia De Rubeis</name><affiliation wicri:level="2"><nlm:aff id="A1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><affiliation wicri:level="2"><nlm:aff id="A1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A3">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A4">Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A5">Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A6">The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></analytic><series><title level="j">Journal of child neurology</title><idno type="ISSN">0883-0738</idno><idno type="eISSN">1708-8283</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Phelan McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent medical comorbidities. In most cases, individuals with PMS have terminal deletions of the chromosomal region 22q13.3 encompassing <italic>SHANK3</italic>, a gene encoding a structural component of excitatory synapses indispensable for proper synaptogenesis and neuronal physiology.</p><p id="P2">Here, we review the clinical aspects of the syndrome and the genetic findings shedding light onto the underlying etiology. We also provide an overview on the evidence from genetic studies and mouse models that supports <italic>SHANK3</italic> haploinsufficiency as a major contributor of the neurobehavioral manifestations of PMS. Finally, we discuss how all these discoveries are uncovering the pathophysiology of PMS and are being translated into clinical trials for novel therapeutics ameliorating the core symptoms of the disorder.</p></div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Harony Nicolas, Hala" sort="Harony Nicolas, Hala" uniqKey="Harony Nicolas H" first="Hala" last="Harony-Nicolas">Hala Harony-Nicolas</name></region><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D." last="Buxbaum">Joseph D. Buxbaum</name><name sortKey="De Rubeis, Silvia" sort="De Rubeis, Silvia" uniqKey="De Rubeis S" first="Silvia" last="De Rubeis">Silvia De Rubeis</name><name sortKey="De Rubeis, Silvia" sort="De Rubeis, Silvia" uniqKey="De Rubeis S" first="Silvia" last="De Rubeis">Silvia De Rubeis</name><name sortKey="Harony Nicolas, Hala" sort="Harony Nicolas, Hala" uniqKey="Harony Nicolas H" first="Hala" last="Harony-Nicolas">Hala Harony-Nicolas</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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