OMIM@xiajingbo:102560-9-ACTG1
Annnotations
{"target":"http://pubannotation.org/docs/sourcedb/OMIM@xiajingbo/sourceid/102560-9-ACTG1","sourcedb":"OMIM@xiajingbo","sourceid":"102560-9-ACTG1","text":"In 3 unrelated individuals with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-T transition at nucleotide 464 of the ACTG1 gene, resulting in a ser-to-phe substitution at codon 155 (S155F). This mutation was proven to have occurred de novo in 2 of the 3; in the third, parental DNA was not available. One of these 3 patients, LP98-096, was reported by Baraitser and Winter (1988). This mutation was not identified in 224 control exomes. Riviere et al. (2012) studied lymphoblastoid cell lines from individuals carrying the S155F mutation and demonstrated that these had increased F-actin content and multiple, anomalous F-actin-rich filopodia-like protrusions compared to control cells, resulting in increased cell perimeter. 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