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Title: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Authors: Rivière, Jean-Baptiste ×
van Bon, Bregje W M
Hoischen, Alexander
Kholmanskikh, Stanislav S
O'Roak, Brian J
Gilissen, Christian
Gijsen, Sabine
Sullivan, Christopher T
Christian, Susan L
Abdul-Rahman, Omar A
Atkin, Joan F
Chassaing, Nicolas
Drouin-Garraud, Valerie
Fry, Andrew E
Fryns, Jean-Pierre
Gripp, Karen W
Kempers, Marlies
Kleefstra, Tjitske
Mancini, Grazia M S
Nowaczyk, Małgorzata J M
van Ravenswaaij-Arts, Conny M A
Roscioli, Tony
Marble, Michael
Rosenfeld, Jill A
Siu, Victoria M
de Vries, Bert B A
Shendure, Jay
Verloes, Alain
Veltman, Joris A
Brunner, Han G
Ross, M Elizabeth
Pilz, Daniela T
Dobyns, William B #
Issue Date: Apr-2012
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:44 issue:4 pages:440-442
Article number: 10.1038/ng.1091
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, encoding p.Arg196His, and ACTG1, encoding p.Ser155Phe). Our results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.
URI: 
ISSN: 1061-4036
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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