Article
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
Human mutation - 1 Oct 2017
de Boer Martin, van Leeuwen Karin, Geissler Judy, van Alphen Floris, de Vries Esther, van der Kuip Martijn, Terheggen Suzanne W J, Janssen Hans, van den Berg Timo K, Meijer Alexander B, Roos Dirk, Kuijpers Taco W
Abstract excerpt
Hermansky-Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta-3A subunit of the adaptor protein (AP)-3 complex (AP3B1 gene). We describe five unreported cases with four novel mutations, one of which caused aberrant pre-mRNA splicing. A point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.