De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

ABSTRACT: Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role for de novo mutations. Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal migration defect. Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively. Sequencing of both genes in 15 additional affected individuals identified disease-causing mutations in all probands, including two recurrent de novo alterations (ACTB, encodin

SUBMITTER: Riviere JB 

PROVIDER: S-EPMC3677859 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature