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


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 ?- and ?-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.

SUBMITTER: Verloes A 

PROVIDER: S-EPMC4326722 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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

Verloes Alain A   Di Donato Nataliya N   Masliah-Planchon Julien J   Jongmans Marjolijn M   Abdul-Raman Omar A OA   Albrecht Beate B   Allanson Judith J   Brunner Han H   Bertola Debora D   Chassaing Nicolas N   David Albert A   Devriendt Koen K   Eftekhari Pirayeh P   Drouin-Garraud Valérie V   Faravelli Francesca F   Faivre Laurence L   Giuliano Fabienne F   Guion Almeida Leina L   Juncos Jorge J   Kempers Marlies M   Eker Hatice Koçak HK   Lacombe Didier D   Lin Angela A   Mancini Grazia G   Melis Daniela D   Lourenço Charles Marques CM   Siu Victoria Mok VM   Morin Gilles G   Nezarati Marjan M   Nowaczyk Malgorzata J M MJ   Ramer Jeanette C JC   Osimani Sara S   Philip Nicole N   Pierpont Mary Ella ME   Procaccio Vincent V   Roseli Zeichi-Seide ZS   Rossi Massimiliano M   Rusu Cristina C   Sznajer Yves Y   Templin Ludivine L   Uliana Vera V   Klaus Mirjam M   Van Bon Bregje B   Van Ravenswaaij Conny C   Wainer Bruce B   Fry Andrew E AE   Rump Andreas A   Hoischen Alexander A   Drunat Séverine S   Rivière Jean-Baptiste JB   Dobyns William B WB   Pilz Daniela T DT  

European journal of human genetics : EJHG 20140723 3


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 dysmo  ...[more]

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