Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p.Gln59Arg; and c.608C > T, p.Thr203Met) were identified.
['Chacon-Camacho|Oscar F|OF|', 'Barragán-Arévalo|Tania|T|', 'Villarroel|Camilo E|CE|', 'Almanza-Monterrubio|Mónica|M|', 'Zenteno|Juan Carlos|JC|']
D000199:Actins D002648:Child D019465:Craniofacial Abnormalities D002658:Developmental Disabilities D005123:Eye D006801:Humans D007223:Infant D008297:Male D020125:Mutation, Missense D010641:Phenotype D013577:Syndrome
ACTG1 Baraitser-winter cerebrofrontofacial syndrome ACTB BWCFF Congenital fibrosis of extraocular muscles Eye coloboma Hypospadias Pachygyria Ptosis Strabismus