> top > docs > OMIM@xiajingbo:102630-2-ACTB

OMIM@xiajingbo:102630-2-ACTB JSONTXT

In 7 of 10 patients with Baraitser-Winter syndrome-1 (BRWS1; 243310), Riviere et al. (2012) identified a heterozygous G-to-A transition at nucleotide 587 of the ACTB gene, resulting in an arg-to-his substitution at codon 196 (R196H). In 2 patients from whom parental DNA was available the mutation was determined to have occurred de novo. This mutation was not identified in 212 other exomes. Lymphoblastoid cell lines established from patients carrying this mutation had greatly increased F-actin content and multiple, anomalous F-actin-rich, filopodia-like protrusions compared to control cells, resulting in an increased cell perimeter.

projects that include this document

Unselected / annnotation Selected / annnotation