Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 163 Số 2 - Trang 92-105 - 2013
Edouard Cottereau1, Isabelle Mortemousque2, Marie‐Pierre Moizard3, Lydie Bürglen4, Didier Lacombe5, Brigitte Gilbert‐Dussardier6, Sabine Sigaudy7, Valérie Cormier‐Daire8, Albert David9, Laurence Faivre10, Jeanne Amiel11, R. C. Robertson, Fabiana Ramos, Éric Bieth12, Sylvie Odent13, Bénédicte Demeer14, M Mathieu15, Dominique Gaillard16, Lionel Van Maldergem17, Geneviève Baujat11, Isabelle Maystadt, Delphine Héron18, Alain Verloès19, Nicole Philip20,21, MARIE‐FRANÇOISE FROUTÉ, Lucile Pinson, Patricia Blanchet22, Pierre Sarda23, Marjolaine Willems24, Adeline Jacquinet25, Ilham Ratbi26,27, Jenneke van den Ende28, Maciej Lis, Alice Goldenberg7, Dominique Bonneau29,30, Sylvie Rossignol31, Annick Toutain2
1Service de Génétique, Centre Hospitalo‐Universitaire, and UMR INSERM U930, Faculté de Médecine, Université François Rabelais, Tours, France.
2Service de génétique [Tours] (France)
3iBraiN - Imaging, Brain & Neuropsychiatry (10 Bd Tonnellé Bât. Thérèse Planiol 37032 Tours Cedex 1 - France)
4CHU Trousseau [APHP] (26 Avenue du Dr Arnold Netter, 75012 Paris - France)
5Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide (Hôpital Saint Eloi - Bâtiment INM 80 rue Augustin Fliche BP 74103 - 34091 Montpellier cedex 5 - France)
6Génétique Médicale (86000 Poitiers - France)
7Service de génétique [Rouen] (Centre Hospitalier Universitaire de Rouen, 1 Rue de Germont, 76031 Rouen - France)
8Service de Génétique clinique (2 avenue Oscar Lambret, 59000 Lille - France)
9Service de génétique médicale - Unité de génétique clinique [Nantes] (5 allée de l'Île Gloriette, 44000 Nantes - France)
10Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon) (CHU de Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 DIJON Cedex - France)
11Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Gh Necker - Enfants Malades 149, Rue de Sevres 75743 PARIS CEDEX 15 - France)
12Service Génétique Médicale [CHU Toulouse] (Institut Fédératif de Biologie (IFB) 330, avenue de Grande-Bretagne - TSA 40031 - 31059 Toulouse cedex 9 - France)
13IGDR - Institut de Génétique et Développement de Rennes (Faculté de Médecine - CS 34317 2 Av du Professeur Léon Bernard 35043 Rennes Cedex - France)
14Service de génétique médicale (Place Victor Pauchet, 80054 Amiens Cedex 1 - France)
15Head of the Department of Medical Genetics (Belgium)
16Service de Génétique (51092 Reims - France)
17Regional Hospital (Créteil - France)
18CHU Pitié-Salpêtrière [AP-HP] (47-83 Boulevard de l'Hôpital, 75013 Paris - France)
19Département de génétique (48, boulevard Sérurier 75935 Paris cedex 19 - France)
20Centre de Référence ' Anomalies du Développement et Syndromes Malformatifs Sud - Est PACA ' (Marseille - France)
21GMGF - Génétique Médicale et Génomique Fonctionnelle (Faculté de Médecine - 27 boulevard Jean Moulin 13385 Marseille Cedex 05 - France)
22Unité de Génétique Médicale et Foetopathologie (371, av du Doyen G. Giraud, 34295 Montpellier Cedex 5 - France)
23CHU de Montpellier, France
24Département de Génétique Médicale (CLAD Sud Languedoc-Roussillon, France - France)
25Centre Hospitalier Universitaire de Liège - CHU > > Génétique >
26Centre de Génomique Humaine (Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat - Morocco)
27Département de Génétique médicale (27 avenue Ibn Batouta, BP 769, 11400 Rabat, - Morocco)
28Biomedical Sciences (Antwerp - Belgium)
29Mitochondrie : Régulations et Pathologie (CHU 4, Rue Larrey 49033 Angers Cedex - France)
30Service de génétique (4, Rue Larrey 49033 Angers Cedex - France)
31UMRS893 - Centre de Recherche Saint-Antoine (75012 Paris - France)

Tóm tắt

AbstractSimpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital abnormality/intellectual disability syndrome characterized by pre‐ and post‐natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified as the major gene causing SGBS but the mutation detection rate was only 28–70%, suggesting either genetic heterogeneity or that some patients could have alternative diagnoses. This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC4 have yet been reported. In the genetics laboratory in Tours Hospital, GPC3 molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. In addition, GPC4 mutations have not been identified thus raising the question of frequent misdiagnosis. In order to better delineate the phenotypic spectrum of SGBS caused by GPC3 mutations, and to try to define specific clinical criteria for GPC3 molecular testing, we reviewed the clinical features of all male cases with a GPC3 mutation identified in the two molecular laboratories providing this test in France (Tours and Paris). We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates. © 2013 Wiley Periodicals, Inc.

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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Tập 163 Số 2

92-105

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