Title: Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Authors: Verloes, Alain ×
Di Donato, Nataliya
Masliah-Planchon, Julien
Jongmans, Marjolijn
Abdul-Raman, Omar A
Albrecht, Beate
Allanson, Judith
Brunner, Han
Bertola, Debora
Chassaing, Nicolas
David, Albert
Devriendt, Koenraad
Eftekhari, Pirayeh
Drouin-Garraud, Valérie
Faravelli, Francesca
Faivre, Laurence
Giuliano, Fabienne
Guion Almeida, Leina
Juncos, Jorge
Kempers, Marlies
Eker, Hatice Koçak
Lacombe, Didier
Lin, Angela
Mancini, Grazia
Melis, Daniela
Lourenço, Charles Marques
Siu, Victoria Mok
Morin, Gilles
Nezarati, Marjan
Nowaczyk, Malgorzata J M
Ramer, Jeanette C
Osimani, Sara
Philip, Nicole
Pierpont, Mary Ella
Procaccio, Vincent
Roseli, Zeichi-Seide
Rossi, Massimiliano
Rusu, Cristina
Sznajer, Yves
Templin, Ludivine
Uliana, Vera
Klaus, Mirjam
Van Bon, Bregje
Van Ravenswaaij, Conny
Wainer, Bruce
Fry, Andrew E
Rump, Andreas
Hoischen, Alexander
Drunat, Séverine
Rivière, Jean-Baptiste
Dobyns, William B
Pilz, Daniela T #
Issue Date: Mar-2015
Publisher: Karger
Series Title: European Journal of Human Genetics vol:23 issue:3 pages:292-301
Article number: 10.1038/ejhg.2014.95
Abstract: 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 β- and γ-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.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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