News article: Toronto doctors identify new disease in children caused by defective gene
10.1038/ncomms14816: Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Three ARPC1B mutations, all pathogenic when inherited recessively (or as compound heterozygotes) are described:
- c.269_270dupCT, p.Val91Trpfs*30
- c.314C>T, p. Ala105Val
- c.712G>A, p.Ala238Thr