Contributors: CHU Dijon; Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon); Génétique des Anomalies du Développement (GAD); Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC; Children's hospital of Eastern Ontario Research Institute; University of Bergen (UiB); Haukeland University Hospital; Human Genetics Institute; Universität Heidelberg Heidelberg = Heidelberg University; Department of Paediatrics and Adolescent Medicine HKU; The University of Hong Kong (HKU); SW Thames Regional Genetics Service, St Georgeâ™s University of London, London; St George's Hospital; INGEMM, Instituto de Genética Médica y Molecular, IDIPAZ-Hospital Universitario La Paz; Instituto de Salud Carlos III Madrid (ISC); Hospital Central de la Cruz Roja San Jose y Santa Adela; University Hospital Puerta de Hierro, Madrid; Bodø University College; Humangenetik; Universitätsklinikum Frankfurt; University of Frankfurt; University of Melbourne; Victorian Clinical Genetics Services; Stanford University; The Hospital for sick children Toronto (SickKids); University of California San Francisco (UC San Francisco); University of California (UC); Hôpital Necker - Enfants Malades AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); CH Le Havre; CHU Pitié-Salpêtrière AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU); Groupe de Recherche Clinique : Génétique des Déficiences Intellectuelles de Causes Rares (associées ou non aux Troubles du Spectre Autistique) (GRC 9); Université Pierre et Marie Curie - Paris 6 (UPMC); CHU Trousseau APHP; CHU Amiens-Picardie; Service de Pédiatrie Jean Verdier; Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP; Institut de Génétique et Développement de Rennes (IGDR); Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ); Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou; Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781); Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon); Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN); Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL); Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon); Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre de Recherche en Nutrition Humaine Rhône-Alpes (CRNH-RA); Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL); Université de Lyon-Université de Lyon-Centre Hospitalier Universitaire CHU Grenoble (CHUGA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 ); Hôpital Côte de Nacre CHU Caen; CHU Caen; Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN); CHU Bordeaux; Centre hospitalier Valenciennes, Nord; Hôpital Jeanne de Flandres; Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC); Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN); Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU); Centre de Recherche Saint-Antoine (UMRS893); Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC); Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM); University of Calgary; Financial support was from the Regional Council of Burgundy and the Care4Rare Canada Consortium was funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec, and Children’sHospital of Eastern Ontario Foundation. DAD is the recipient of a CIHR Clinical Investigator award from the Institute of Genetics. PRN was supported in part by grants from the Research Council of Norway, The University of Bergen, an ERC Advanced Grant, Helse Vest and the KG Jebsen Foundation.
Abstract: International audience ; 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 \textless 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.
_0.png)
Processing Request
No Comments.