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Article Dans Une Revue Eur J Hum Genet Année : 2014

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

1 Hôpital Robert Debré
2 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
3 Universitätsklinikum Carl Gustav Carus
4 UPD7 - Université Paris Diderot - Paris 7
5 Radboud University Medical Center [Nijmegen]
6 UMMC - University of Mississippi Medical Center
7 Uniklinik Essen - Universitätsklinikum Essen [Universität Duisburg-Essen]
8 Children's Hospital of Eastern Ontario [Ottawa, Canada]
9 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
10 CHU Nantes - Centre Hospitalier Universitaire de Nantes
11 University Hospital Gasthuisberg [Leuven]
12 Hôpital Lariboisière-Fernand-Widal [APHP]
13 CHU Rouen
14 Ospedale Galliera
15 CHU Dijon
16 CHU Nice - Centre Hospitalier Universitaire de Nice
17 USP - Universidade de São Paulo = University of São Paulo
18 Emory University School of Medicine
19 CHU Bordeaux
20 Massachusetts General Hospital [Boston]
21 Erasmus MC - Erasmus University Medical Center [Rotterdam]
22 University of Naples Federico II = Università degli studi di Napoli Federico II
23 UWO - University of Western Ontario
24 CHU Amiens-Picardie
25 McMaster University [Hamilton, Ontario]
26 Penn State - Pennsylvania State University
27 TIMONE - Hôpital de la Timone [CHU - APHM]
28 University of Minnesota [MN, USA]
29 CHU Angers - Centre Hospitalier Universitaire d'Angers
30 CHLS - Centre Hospitalier Lyon Sud [CHU - HCL]
31 Cliniques Universitaires Saint-Luc [Bruxelles]
32 University Hospital Groningen
33 UHW - University Hospital of Wales
34 Seattle Children’s Hospital
Debora Bertola
  • Fonction : Auteur
N. Chassaing
  • Fonction : Auteur
  • PersonId : 902643
V. Drouin-Garraud
  • Fonction : Auteur
F. Faravelli
  • Fonction : Auteur
Laurence Faivre
H. Eker
  • Fonction : Auteur
Didier Lacombe
  • Fonction : Auteur
Gilles Morin
  • Fonction : Auteur
M. Nezarati
  • Fonction : Auteur
Vincent Procaccio
  • Fonction : Auteur
  • PersonId : 991978
C. Rusu
  • Fonction : Auteur
V. Uliana
  • Fonction : Auteur
M. Klaus
  • Fonction : Auteur
B. Wainer
  • Fonction : Auteur

Résumé

Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancer-predisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity.European Journal of Human Genetics advance online publication, 23 July 2014; doi:10.1038/ejhg.2014.95.

Dates et versions

hal-03403937 , version 1 (26-10-2021)

Identifiants

Citer

Alain Verloes, N. Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, O. Abdul-Raman, et al.. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet, 2014, 23, pp.292 - 301. ⟨10.1038/ejhg.2014.95⟩. ⟨hal-03403937⟩
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