Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

P. Callier; B. Aral; N. Hanna; S. Lambert; H. Dindy; C. Ragon; M. Payet; Gwenaëlle Collod-Béroud; V. Carmignac; M. A. Delrue; C. Goizet; Nicole Philip; Tiffany Busa; Y. Dulac; I. Missotte; Y. Sznajer; A. Toutain; C. Francannet; André Mégarbané; S. Julia; T. Edouard; P. Sarda; J. Amiel; S. Lyonnet; V. Cormier-Daire; B. Gilbert; A. Jacquette; D. Heron; P. Collignon; D. Lacombe; F. Morice-Picard; P. S. Jouk; V. Cusin; M. Willems; E. Sarrazin; K. Amarof; C. Coubes; M. C. Addor; H. Journel; E. Colin; P. Khau van Kien; C. Baumann; B. Leheup; D. Martin-Coignard; M. Doco-Fenzy; A. Goldenberg; G. Plessis; J. Thevenon; L. Pasquier; S. Odent; P. Vabres; F. Huet; N. Marle; A. L. Mosca-Boidron; F. Mugneret; S. Gauthier; C. Binquet; C. Thauvin-Robinet; G. Jondeau; C. Boileau; L. Faivre

doi:10.1111/cge.12094

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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

P. Callier, B. Aral, N. Hanna, S. Lambert, H. Dindy, C. Ragon, M. Payet, Gwenaëlle Collod-Béroud, V. Carmignac, M. A. Delrue, …

Clinical Genetics, Vol.84(6), pp.507--521

2013

DOI: https://doi.org/10.1111/cge.12094

PMID: 23506379

Résumé

The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc., Santa Clara, CA) and MED12, ZDHHC9, UPF3B, FBN1, TGFBR1 and TGFBR2 sequencing analyses were performed. Eighty patients could be classified as isolated MH and ID: 12 chromosomal imbalances, 1 FBN1 mutation and 1 possibly pathogenic MED12 mutation were found (17%). Twenty patients could be classified as ID with other extra-skeletal features of the Marfan syndrome (MFS) spectrum: 4 pathogenic FBN1 mutations and 4 chromosomal imbalances were found (2 patients with both FBN1 mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non-specific feature of patients with ID. The search for aortic complications is mandatory even if MH is associated with ID since FBN1 mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.

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Titre: Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
Créateurs - sans rôle: P. Callier - Physiogenex
B. Aral - Université de Bourgogne
N. Hanna - Hôpital Ambroise-Paré
S. Lambert - Université de Bourgogne
H. Dindy - Hôpital Ambroise Paré [AP-HP]
C. Ragon - Physiogenex
M. Payet - Physiogenex
Gwenaëlle Collod-Béroud - Inserm
V. Carmignac - Université de Bourgogne
M. A. Delrue - Université de Bordeaux
C. Goizet - Université de Bordeaux
Nicole Philip - Assistance Publique Hôpitaux de Marseille
Tiffany Busa - Assistance Publique Hôpitaux de Marseille
Y. Dulac - Centre Hospitalier Universitaire de Toulouse
I. Missotte - Centre hospitalier territorial Gaston-Bourret [Nouméa]
Y. Sznajer - Cliniques Universitaires Saint-Luc
A. Toutain - Centre Hospitalier Universitaire de Tours
C. Francannet - Centre Hospitalier Universitaire de Clermont-Ferrand
André Mégarbané - Saint Joseph University
S. Julia - Centre Hospitalier Universitaire de Toulouse
T. Edouard - Centre Hospitalier Universitaire de Toulouse
P. Sarda - Institut de Génétique Moléculaire de Montpellier
J. Amiel - Hôpital Necker-Enfants Malades
S. Lyonnet - Hôpital Necker-Enfants Malades
V. Cormier-Daire - Hôpital Necker-Enfants Malades
B. Gilbert - Laboratoire de Génétique Cellulaire
A. Jacquette - Pitié-Salpêtrière Hospital
D. Heron - Sorbonne Université
P. Collignon - Hôpital intercommunal de Font-Pré
D. Lacombe - Université de Bordeaux
F. Morice-Picard - Université de Bordeaux
P. S. Jouk - Centre Hospitalier Universitaire de Grenoble
V. Cusin - Hôpital Bichat-Claude-Bernard
M. Willems - Hôpital Necker-Enfants Malades
E. Sarrazin - Centre Hospitalier Universitaire de Martinique
K. Amarof - Centre Hospitalier Universitaire de Martinique
C. Coubes - Institut de Génétique Moléculaire de Montpellier
M. C. Addor - University Hospital of Lausanne
H. Journel - Centre hospitalier Bretagne Atlantique
E. Colin - Centre Hospitalier Universitaire d'Angers
P. Khau van Kien - Université de Montpellier, Institut de Génétique Humaine - IGH
C. Baumann - Hôpital Robert-Debré
B. Leheup - Nutrition-Génétique et Exposition aux Risques Environnementaux
D. Martin-Coignard - Centre Hospitalier Le Mans (CH Le Mans)
M. Doco-Fenzy - Centre Hospitalier Universitaire de Reims
A. Goldenberg - Centre Hospitalier Universitaire de Rouen
G. Plessis - Centre Hospitalier Universitaire de Caen Normandie
J. Thevenon - Hôpital d'Enfants
L. Pasquier - Centre Hospitalier Universitaire de Rennes
S. Odent - Centre Hospitalier Universitaire de Rennes
P. Vabres - Université de Bourgogne
F. Huet - Université de Bourgogne
N. Marle - Université de Bourgogne
A. L. Mosca-Boidron - Equipe GAD (LNC - U1231)
F. Mugneret - Physiogenex
S. Gauthier - Hôpital d'Enfants
C. Binquet - Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques
C. Thauvin-Robinet - Université de Bourgogne
G. Jondeau - Hôpital Bichat-Claude-Bernard
C. Boileau - Hôpital Ambroise-Paré
L. Faivre - Hôpital d'Enfants
Détails de publication: Clinical Genetics, Vol.84(6), pp.507--521
Identifiants: 99153286709311
Unité académique: Institut de Génétique Humaine - IGH
Langue: English
Type de ressource: Journal article
Champs locaux: hal-01068032