Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
Identifieur interne : 000064 ( PubMed/Corpus ); précédent : 000063; suivant : 000065Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
Auteurs : Magali Avila ; David A. Dyment ; J Rn V. Sagen ; Judith St-Onge ; Ute Moog ; Brian H Y. Chung ; Sahar Mansour ; Assunta Albanese ; Sixto Garcia ; David Ortiz Martin ; Ainhoa Abad Lopez ; Tor Claudi ; Rainer König ; Susan M. White ; Sarah L. Sawyer ; Jon A. Bernstein ; Leah Slattery ; Rebekah K. Jobling ; Grace Yoon ; Cynthia J. Curry ; Martine Le Merrer ; Bernard Le Luyer ; Delphine Héron ; Michèle Mathieu-Dramard ; Pierre Bitoun ; Sylvie Odent ; Jeanne Amiel ; Paul Kuentz ; Julien Thevenon ; Martine Laville ; Yves Reznik ; Cédric Fagour ; Marie-Laure Nunes ; Dorothée Delesalle ; Sylvie Manouvrier ; Olivier Lascols ; Frédéric Huet ; Christine Binquet ; Laurence Faivre ; Jean-Baptiste Rivière ; Corinne Vigouroux ; P L Rasmus Nj Lstad ; A Micheil Innes ; Christel Thauvin-RobinetSource :
- Clinical genetics [ 1399-0004 ] ; 2015.
Abstract
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR < 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.
DOI: 10.1111/cge.12688
PubMed: 26497935
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pubmed:26497935Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.</title><author><name sortKey="Avila, Magali" sort="Avila, Magali" uniqKey="Avila M" first="Magali" last="Avila">Magali Avila</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Dyment, David A" sort="Dyment, David A" uniqKey="Dyment D" first="David A" last="Dyment">David A. Dyment</name><affiliation><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Sagen, J Rn V" sort="Sagen, J Rn V" uniqKey="Sagen J" first="J Rn V" last="Sagen">J Rn V. Sagen</name><affiliation><nlm:affiliation>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="St Onge, Judith" sort="St Onge, Judith" uniqKey="St Onge J" first="Judith" last="St-Onge">Judith St-Onge</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><affiliation><nlm:affiliation>Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H Y" last="Chung">Brian H Y. Chung</name><affiliation><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen, China.</nlm:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:affiliation>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Albanese, Assunta" sort="Albanese, Assunta" uniqKey="Albanese A" first="Assunta" last="Albanese">Assunta Albanese</name><affiliation><nlm:affiliation>Paediatric Endocrine Unit, St George's Hospital, Blackshaw Road, London, SW17 0QT.</nlm:affiliation></affiliation></author><author><name sortKey="Garcia, Sixto" sort="Garcia, Sixto" uniqKey="Garcia S" first="Sixto" last="Garcia">Sixto Garcia</name><affiliation><nlm:affiliation>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Ortiz Martin, David" sort="Ortiz Martin, David" uniqKey="Ortiz Martin D" first="David" last="Ortiz Martin">David Ortiz Martin</name><affiliation><nlm:affiliation>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Lopez, Ainhoa Abad" sort="Lopez, Ainhoa Abad" uniqKey="Lopez A" first="Ainhoa Abad" last="Lopez">Ainhoa Abad Lopez</name><affiliation><nlm:affiliation>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda, Madrid.</nlm:affiliation></affiliation></author><author><name sortKey="Claudi, Tor" sort="Claudi, Tor" uniqKey="Claudi T" first="Tor" last="Claudi">Tor Claudi</name><affiliation><nlm:affiliation>Department of Medicine, Nordlandssykehuset, N-8092, Bodø, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name><affiliation><nlm:affiliation>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name><affiliation><nlm:affiliation>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Sawyer, Sarah L" sort="Sawyer, Sarah L" uniqKey="Sawyer S" first="Sarah L" last="Sawyer">Sarah L. Sawyer</name><affiliation><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bernstein, Jon A" sort="Bernstein, Jon A" uniqKey="Bernstein J" first="Jon A" last="Bernstein">Jon A. Bernstein</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Slattery, Leah" sort="Slattery, Leah" uniqKey="Slattery L" first="Leah" last="Slattery">Leah Slattery</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Jobling, Rebekah K" sort="Jobling, Rebekah K" uniqKey="Jobling R" first="Rebekah K" last="Jobling">Rebekah K. Jobling</name><affiliation><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name><affiliation><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J" last="Curry">Cynthia J. Curry</name><affiliation><nlm:affiliation>Department of Pediatrics, University of California, San Francisco, CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Le Luyer, Bernard" sort="Le Luyer, Bernard" uniqKey="Le Luyer B" first="Bernard" last="Le Luyer">Bernard Le Luyer</name><affiliation><nlm:affiliation>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre, France.</nlm:affiliation></affiliation></author><author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name><affiliation><nlm:affiliation>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mathieu Dramard, Michele" sort="Mathieu Dramard, Michele" uniqKey="Mathieu Dramard M" first="Michèle" last="Mathieu-Dramard">Michèle Mathieu-Dramard</name><affiliation><nlm:affiliation>Service de Génétique clinique, CHU Amiens, F-80054, Amiens, France.</nlm:affiliation></affiliation></author><author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name><affiliation><nlm:affiliation>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:affiliation>Service de Génétique clinique, CHU Rennes, F-35203, Rennes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Kuentz, Paul" sort="Kuentz, Paul" uniqKey="Kuentz P" first="Paul" last="Kuentz">Paul Kuentz</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Laville, Martine" sort="Laville, Martine" uniqKey="Laville M" first="Martine" last="Laville">Martine Laville</name><affiliation><nlm:affiliation>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite, France.</nlm:affiliation></affiliation></author><author><name sortKey="Reznik, Yves" sort="Reznik, Yves" uniqKey="Reznik Y" first="Yves" last="Reznik">Yves Reznik</name><affiliation><nlm:affiliation>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Fagour, Cedric" sort="Fagour, Cedric" uniqKey="Fagour C" first="Cédric" last="Fagour">Cédric Fagour</name><affiliation><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation></affiliation></author><author><name sortKey="Nunes, Marie Laure" sort="Nunes, Marie Laure" uniqKey="Nunes M" first="Marie-Laure" last="Nunes">Marie-Laure Nunes</name><affiliation><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation></affiliation></author><author><name sortKey="Delesalle, Dorothee" sort="Delesalle, Dorothee" uniqKey="Delesalle D" first="Dorothée" last="Delesalle">Dorothée Delesalle</name><affiliation><nlm:affiliation>Service de pédiatrie, CH de Valencienne, Valencienne, France.</nlm:affiliation></affiliation></author><author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name><affiliation><nlm:affiliation>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lascols, Olivier" sort="Lascols, Olivier" uniqKey="Lascols O" first="Olivier" last="Lascols">Olivier Lascols</name><affiliation><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation><nlm:affiliation>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name><affiliation><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Nj Lstad, P L Rasmus" sort="Nj Lstad, P L Rasmus" uniqKey="Nj Lstad P" first="P L Rasmus" last="Nj Lstad">P L Rasmus Nj Lstad</name><affiliation><nlm:affiliation>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Innes, A Micheil" sort="Innes, A Micheil" uniqKey="Innes A" first="A Micheil" last="Innes">A Micheil Innes</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26497935</idno><idno type="pmid">26497935</idno><idno type="doi">10.1111/cge.12688</idno><idno type="wicri:Area/PubMed/Corpus">000064</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.</title><author><name sortKey="Avila, Magali" sort="Avila, Magali" uniqKey="Avila M" first="Magali" last="Avila">Magali Avila</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Dyment, David A" sort="Dyment, David A" uniqKey="Dyment D" first="David A" last="Dyment">David A. Dyment</name><affiliation><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Sagen, J Rn V" sort="Sagen, J Rn V" uniqKey="Sagen J" first="J Rn V" last="Sagen">J Rn V. Sagen</name><affiliation><nlm:affiliation>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="St Onge, Judith" sort="St Onge, Judith" uniqKey="St Onge J" first="Judith" last="St-Onge">Judith St-Onge</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><affiliation><nlm:affiliation>Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H Y" last="Chung">Brian H Y. Chung</name><affiliation><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen, China.</nlm:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:affiliation>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Albanese, Assunta" sort="Albanese, Assunta" uniqKey="Albanese A" first="Assunta" last="Albanese">Assunta Albanese</name><affiliation><nlm:affiliation>Paediatric Endocrine Unit, St George's Hospital, Blackshaw Road, London, SW17 0QT.</nlm:affiliation></affiliation></author><author><name sortKey="Garcia, Sixto" sort="Garcia, Sixto" uniqKey="Garcia S" first="Sixto" last="Garcia">Sixto Garcia</name><affiliation><nlm:affiliation>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Ortiz Martin, David" sort="Ortiz Martin, David" uniqKey="Ortiz Martin D" first="David" last="Ortiz Martin">David Ortiz Martin</name><affiliation><nlm:affiliation>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Lopez, Ainhoa Abad" sort="Lopez, Ainhoa Abad" uniqKey="Lopez A" first="Ainhoa Abad" last="Lopez">Ainhoa Abad Lopez</name><affiliation><nlm:affiliation>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda, Madrid.</nlm:affiliation></affiliation></author><author><name sortKey="Claudi, Tor" sort="Claudi, Tor" uniqKey="Claudi T" first="Tor" last="Claudi">Tor Claudi</name><affiliation><nlm:affiliation>Department of Medicine, Nordlandssykehuset, N-8092, Bodø, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name><affiliation><nlm:affiliation>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name><affiliation><nlm:affiliation>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Sawyer, Sarah L" sort="Sawyer, Sarah L" uniqKey="Sawyer S" first="Sarah L" last="Sawyer">Sarah L. Sawyer</name><affiliation><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bernstein, Jon A" sort="Bernstein, Jon A" uniqKey="Bernstein J" first="Jon A" last="Bernstein">Jon A. Bernstein</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Slattery, Leah" sort="Slattery, Leah" uniqKey="Slattery L" first="Leah" last="Slattery">Leah Slattery</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Jobling, Rebekah K" sort="Jobling, Rebekah K" uniqKey="Jobling R" first="Rebekah K" last="Jobling">Rebekah K. Jobling</name><affiliation><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name><affiliation><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J" last="Curry">Cynthia J. Curry</name><affiliation><nlm:affiliation>Department of Pediatrics, University of California, San Francisco, CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Le Luyer, Bernard" sort="Le Luyer, Bernard" uniqKey="Le Luyer B" first="Bernard" last="Le Luyer">Bernard Le Luyer</name><affiliation><nlm:affiliation>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre, France.</nlm:affiliation></affiliation></author><author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name><affiliation><nlm:affiliation>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mathieu Dramard, Michele" sort="Mathieu Dramard, Michele" uniqKey="Mathieu Dramard M" first="Michèle" last="Mathieu-Dramard">Michèle Mathieu-Dramard</name><affiliation><nlm:affiliation>Service de Génétique clinique, CHU Amiens, F-80054, Amiens, France.</nlm:affiliation></affiliation></author><author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name><affiliation><nlm:affiliation>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:affiliation>Service de Génétique clinique, CHU Rennes, F-35203, Rennes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Kuentz, Paul" sort="Kuentz, Paul" uniqKey="Kuentz P" first="Paul" last="Kuentz">Paul Kuentz</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Laville, Martine" sort="Laville, Martine" uniqKey="Laville M" first="Martine" last="Laville">Martine Laville</name><affiliation><nlm:affiliation>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite, France.</nlm:affiliation></affiliation></author><author><name sortKey="Reznik, Yves" sort="Reznik, Yves" uniqKey="Reznik Y" first="Yves" last="Reznik">Yves Reznik</name><affiliation><nlm:affiliation>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Fagour, Cedric" sort="Fagour, Cedric" uniqKey="Fagour C" first="Cédric" last="Fagour">Cédric Fagour</name><affiliation><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation></affiliation></author><author><name sortKey="Nunes, Marie Laure" sort="Nunes, Marie Laure" uniqKey="Nunes M" first="Marie-Laure" last="Nunes">Marie-Laure Nunes</name><affiliation><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation></affiliation></author><author><name sortKey="Delesalle, Dorothee" sort="Delesalle, Dorothee" uniqKey="Delesalle D" first="Dorothée" last="Delesalle">Dorothée Delesalle</name><affiliation><nlm:affiliation>Service de pédiatrie, CH de Valencienne, Valencienne, France.</nlm:affiliation></affiliation></author><author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name><affiliation><nlm:affiliation>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lascols, Olivier" sort="Lascols, Olivier" uniqKey="Lascols O" first="Olivier" last="Lascols">Olivier Lascols</name><affiliation><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation><nlm:affiliation>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name><affiliation><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Nj Lstad, P L Rasmus" sort="Nj Lstad, P L Rasmus" uniqKey="Nj Lstad P" first="P L Rasmus" last="Nj Lstad">P L Rasmus Nj Lstad</name><affiliation><nlm:affiliation>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Innes, A Micheil" sort="Innes, A Micheil" uniqKey="Innes A" first="A Micheil" last="Innes">A Micheil Innes</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Clinical genetics</title><idno type="eISSN">1399-0004</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR < 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">26497935</PMID><DateCreated><Year>2015</Year><Month>10</Month><Day>26</Day></DateCreated><DateRevised><Year>2015</Year><Month>10</Month><Day>27</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1399-0004</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2015</Year><Month>Oct</Month><Day>24</Day></PubDate></JournalIssue><Title>Clinical genetics</Title><ISOAbbreviation>Clin. Genet.</ISOAbbreviation></Journal><ArticleTitle>Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1111/cge.12688</ELocationID><Abstract><AbstractText NlmCategory="UNASSIGNED">SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR < 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.</AbstractText><CopyrightInformation>This article is protected by copyright. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Avila</LastName><ForeName>Magali</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Service de Pédiatrie 1, Centre Hospitalier Universitaire Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dyment</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sagen</LastName><ForeName>Jørn V</ForeName><Initials>JV</Initials><AffiliationInfo><Affiliation>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen, Norway.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>KJ Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, N-5020, Bergen, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>St-Onge</LastName><ForeName>Judith</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratoire de Génétique Moléculaire, CHU Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moog</LastName><ForeName>Ute</ForeName><Initials>U</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chung</LastName><ForeName>Brian H Y</ForeName><Initials>BH</Initials><AffiliationInfo><Affiliation>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Albanese</LastName><ForeName>Assunta</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Paediatric Endocrine Unit, St George's Hospital, Blackshaw Road, London, SW17 0QT.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Garcia</LastName><ForeName>Sixto</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid, Spain.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Unit 753, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ortiz Martin</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lopez</LastName><ForeName>Ainhoa Abad</ForeName><Initials>AA</Initials><AffiliationInfo><Affiliation>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda, Madrid.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Claudi</LastName><ForeName>Tor</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Medicine, Nordlandssykehuset, N-8092, Bodø, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>König</LastName><ForeName>Rainer</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>White</LastName><ForeName>Susan M</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Departement of Paediatrics, University of Melbourne, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sawyer</LastName><ForeName>Sarah L</ForeName><Initials>SL</Initials><AffiliationInfo><Affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bernstein</LastName><ForeName>Jon A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Slattery</LastName><ForeName>Leah</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jobling</LastName><ForeName>Rebekah K</ForeName><Initials>RK</Initials><AffiliationInfo><Affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yoon</LastName><ForeName>Grace</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Curry</LastName><ForeName>Cynthia J</ForeName><Initials>CJ</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University of California, San Francisco, CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le Merrer</LastName><ForeName>Martine</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le Luyer</LastName><ForeName>Bernard</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Héron</LastName><ForeName>Delphine</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mathieu-Dramard</LastName><ForeName>Michèle</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Service de Génétique clinique, CHU Amiens, F-80054, Amiens, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bitoun</LastName><ForeName>Pierre</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Odent</LastName><ForeName>Sylvie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Génétique clinique, CHU Rennes, F-35203, Rennes, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>UMR CNRS 6290 IGDR, Universitė Rennes 1, F-35203, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Amiel</LastName><ForeName>Jeanne</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kuentz</LastName><ForeName>Paul</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>FHU-TRANSLAD, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, CHU Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thevenon</LastName><ForeName>Julien</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>FHU-TRANSLAD, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, CHU Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laville</LastName><ForeName>Martine</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale Unité 1060, Centre Européen pour la nutrition et la Santé, Centre de Recherche en Nutrition Humaine Rhône-Alpes, Université Claude Bernard Lyon, F-69530, Pierre-Bénite, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reznik</LastName><ForeName>Yves</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fagour</LastName><ForeName>Cédric</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nunes</LastName><ForeName>Marie-Laure</ForeName><Initials>ML</Initials><AffiliationInfo><Affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delesalle</LastName><ForeName>Dorothée</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Service de pédiatrie, CH de Valencienne, Valencienne, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Manouvrier</LastName><ForeName>Sylvie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lascols</LastName><ForeName>Olivier</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>UPMC Univ Paris 06, UMR_S938, F-75005, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ICAN, Institute of Cardiometabolism And Nutrition, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, F-75013, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>AP-HP, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, F-75012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Huet</LastName><ForeName>Frédéric</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Service de Pédiatrie 1, Centre Hospitalier Universitaire Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Binquet</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Faivre</LastName><ForeName>Laurence</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>FHU-TRANSLAD, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, CHU Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rivière</LastName><ForeName>Jean-Baptiste</ForeName><Initials>JB</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratoire de Génétique Moléculaire, CHU Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vigouroux</LastName><ForeName>Corinne</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>UPMC Univ Paris 06, UMR_S938, F-75005, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ICAN, Institute of Cardiometabolism And Nutrition, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, F-75013, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>AP-HP, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, F-75012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Njølstad</LastName><ForeName>Pål Rasmus</ForeName><Initials>PR</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Innes</LastName><ForeName>A Micheil</ForeName><Initials>AM</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB, T2N 4N1, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thauvin-Robinet</LastName><ForeName>Christel</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>FHU-TRANSLAD, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, CHU Dijon, F-21079, Dijon, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>ENG</Language><PublicationTypeList><PublicationType UI="">JOURNAL ARTICLE</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>Oct</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>Denmark</Country><MedlineTA>Clin Genet</MedlineTA><NlmUniqueID>0253664</NlmUniqueID><ISSNLinking>0009-9163</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">PIK3R1 gene</Keyword><Keyword MajorTopicYN="N">SHORT syndrome</Keyword><Keyword MajorTopicYN="N">diabetes</Keyword><Keyword MajorTopicYN="N">insulin resistance</Keyword><Keyword MajorTopicYN="N">intrauterine growth restriction</Keyword><Keyword MajorTopicYN="N">lipoatrophy</Keyword><Keyword MajorTopicYN="N">short stature</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>8</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>9</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>10</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>10</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>10</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>10</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26497935</ArticleId><ArticleId IdType="doi">10.1111/cge.12688</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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