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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

Magali Avila 1, 2, * David A. Dyment 3 Jørn V. Sagen 4, 5 Judith St-Onge 2, 1 Ute Moog 6 Brian H. Y. Chung 7 Sahar Mansour 8 Assunta Albanese 9 Sixto Garcia 10, 11 David Ortiz Martin 12 Ainhoa Abad Lopez 13 Tor Claudi 14 Rainer König 15, 16 Susan M. White 17, 18 Sarah L. Sawyer 3 Jon A. Bernstein 19 Leah Slattery 19 Rebekah K. Jobling 20 Grace Yoon 20 Cynthia J. Curry 21 Martine Le Merrer 22 Bernard Le Luyer 23 Delphine Héron 24, 25, 26, 27 Michèle Mathieu-Dramard 28 Pierre Bitoun 29 Sylvie Odent 30, 31 Jeanne Amiel 32, 22 Paul Kuentz 2 Julien Thevenon 2, 33 Martine Laville 34, 35 Yves Reznik 36 Cédric Fagour 37 Marie-Laure Nunes 37 Dorothée Delesalle 38 Sylvie Manouvrier 39 Olivier Lascols 40, 41, 42 Frédéric Huet 2, 1 Christine Binquet 43 Laurence Faivre 33 Jean-Baptiste Rivière 2, 1 Corinne Vigouroux 42, 40, 41 Pål Rasmus Njølstad 5 A. Micheil Innes 44 Christel Thauvin-Robinet 33, 2, *
* Corresponding author
1 CHU Dijon
2 GAD - Génétique des Anomalies du Développement
3 Children's hospital of Eastern Ontario Research Institute
4 UiB - University of Bergen
5 Haukeland University Hospital
6 Human Genetics Institute
7 Department of Paediatrics and Adolescent Medicine [HKU]
8 SW Thames Regional Genetics Service, St George’s University of London, London
9 St George's Hospital
10 INGEMM, Instituto de Genética Médica y Molecular, IDIPAZ-Hospital Universitario La Paz
11 ISC - Instituto de Salud Carlos III [Madrid]
12 Hospital Central de la Cruz Roja San Jose y Santa Adela
13 University Hospital Puerta de Hierro, Madrid
14 Bodø University College
15 Humangenetik
16 University of Frankfurt
17 University of Melbourne
18 Victorian Clinical Genetics Services
19 Stanford University
20 The Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, Canada
21 UCSF - University of California [San Francisco]
22 CHU Necker - Enfants Malades [AP-HP]
23 CH Le Havre
24 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
25 CHU Pitié-Salpêtrière [AP-HP]
26 GRC - Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme
27 CHU Trousseau [APHP]
28 CHU Amiens-Picardie
29 Service de Pédiatrie [Jean Verdier]
30 IGDR - Institut de Génétique et Développement de Rennes
31 CHU Pontchaillou [Rennes]
32 Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
33 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
34 CarMeN - Cardiovasculaire, métabolisme, diabétologie et nutrition
35 Recherche Clinique
36 Hôpital Côte de Nacre [CHU Caen]
37 CHU Bordeaux [Bordeaux]
38 CH Valenciennes
39 Hôpital Jeanne de Flandres
40 UPMC - Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie
41 ICAN - Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition
42 CR Saint-Antoine - Centre de Recherche Saint-Antoine
43 CIC-EC - Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques
44 University of Calgary
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 \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.
Keywords : PIK3R1 gene short stature Diabetes Insulin Resistance intrauterine growth restriction SHORT syndrome lipoatrophy
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Magali Avila, David A. Dyment, Jørn V. Sagen, Judith St-Onge, Ute Moog, et al.. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Clinical Genetics, Wiley, 2016, 89 (4), pp.501-506. ⟨10.1111/cge.12688⟩. ⟨hal-01225503⟩

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