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• Andries A, Støving RK (2011) Cannabinoid-1 receptor agonists: A therapeutic option in severe, chronic anorexia nervosa?
• Hopf FW (2017) Do specific NMDA receptor subunits act as gateways for addictive behaviors?
• Sawicka N, Gryczyńska M, Sowiński J, Tamborska-Zedlewska M, Ruchała M (2013) Two diagnoses become one?

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         headline:A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa
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      description:The aim of this study was to increase knowledge of genes associated with anorexia nervosa (AN) and their diagnostic offer, using a next generation sequencing (NGS) panel for the identification of genetic variants. The rationale underlying this test is that we first analyze the genes associated with syndromic forms of AN, then genes that were found to carry rare variants in AN patients who had undergone segregation analysis, and finally candidate genes intervening in the same molecular pathways or identified by GWAS or in mouse models. We developed an NGS gene panel and used it to screen 68 Italian AN patients (63 females, 5 males). The panel included 162 genes. Family segregation study was conducted on available relatives of probands who reported significant genetic variants. In our analysis, we found potentially deleterious variants in 2 genes (PDE11A and SLC25A13) associated with syndromic forms of anorexia and predicted deleterious variants in the following 12 genes: CD36, CACNA1C, DRD4, EPHX2, ESR1, GRIN2A, GRIN3B, LRP2, NPY4R, PTGS2, PTPN22 and SGPP2. Furthermore, by Sanger sequencing of the promoter region of NNAT, we confirmed the involvement of this gene in the pathogenesis of AN. Family segregation studies further strengthened the possible causative role of CACNA1C, DRD4, GRIN2A, PTGS2, SGPP2, SLC25A13 and NNAT genes in AN etiology. The major finding of our study is the confirmation of the involvement of the NNAT gene in the pathogenesis of AN; furthermore, this study suggests that NGS-based testing can play an important role in the diagnostic evaluation of AN, excluding syndromic forms and increasing knowledge of the genetic etiology of AN. Level I, experimental study.
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            address:
               name:MAGI EUREGIO, Bolzano, Italy
               type:PostalAddress
            type:Organization
      name:Pietro Chiurazzi
      affiliation:
            name:Università Cattolica del Sacro Cuore
            address:
               name:Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy
               type:PostalAddress
            type:Organization
            name:Fondazione Policlinico Universitario “A. Gemelli” IRCCS, UOC Genetica Medica
            address:
               name:Fondazione Policlinico Universitario “A. Gemelli” IRCCS, UOC Genetica Medica, Roma, Italy
               type:PostalAddress
            type:Organization
      name:Laura Dalla Ragione
      affiliation:
            name:Palazzo Francisci Todi, USL 1 Umbria
            address:
               name:Department of Eating Disorder, Palazzo Francisci Todi, USL 1 Umbria, Todi, Italy
               type:PostalAddress
            type:Organization
            name:University Campus Biomedico of Rome
            address:
               name:Food Science and Human Nutrition Unit, University Campus Biomedico of Rome, Rome, Italy
               type:PostalAddress
            type:Organization
      name:Tommaso Beccari
      affiliation:
            name:University of Perugia
            address:
               name:Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy
               type:PostalAddress
            type:Organization
            name:C.I.B., Consorzio Interuniversitario per le Biotecnologie
            address:
               name:C.I.B., Consorzio Interuniversitario per le Biotecnologie, Trieste, Italy
               type:PostalAddress
            type:Organization
      name:Matteo Bertelli
      affiliation:
            name:MAGI EUREGIO
            address:
               name:MAGI EUREGIO, Bolzano, Italy
               type:PostalAddress
            type:Organization
            name:MAGI’S LAB
            address:
               name:MAGI’S LAB, Rovereto, Italy
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy
      name:C.I.B., Consorzio Interuniversitario per le Biotecnologie, Trieste, Italy
      name:MAGI EUREGIO, Bolzano, Italy
      name:MAGI EUREGIO, Bolzano, Italy
      name:MAGI’S LAB, Rovereto, Italy
      name:MAGI’S LAB, Rovereto, Italy
      name:Department of Eating Disorder, Palazzo Francisci Todi, USL 1 Umbria, Todi, Italy
      name:MAGI EUREGIO, Bolzano, Italy
      name:MAGI EUREGIO, Bolzano, Italy
      name:MAGI’S LAB, Rovereto, Italy
      name:MAGI EUREGIO, Bolzano, Italy
      name:Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy
      name:Fondazione Policlinico Universitario “A. Gemelli” IRCCS, UOC Genetica Medica, Roma, Italy
      name:Department of Eating Disorder, Palazzo Francisci Todi, USL 1 Umbria, Todi, Italy
      name:Food Science and Human Nutrition Unit, University Campus Biomedico of Rome, Rome, Italy
      name:Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy
      name:C.I.B., Consorzio Interuniversitario per le Biotecnologie, Trieste, Italy
      name:MAGI EUREGIO, Bolzano, Italy
      name:MAGI’S LAB, Rovereto, Italy
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