A novel inherited mutation in PRKAR1A abrogates preRNA splicing in a Carney complex family

Conclusion This study reports a novel splicing mutation in the PRKAR1A gene that adds to the genetic heterogeneity of CNC. Teaser The aim of this study was to identify genetic abnormalities in a Chinese Carney complex family. Using whole-exome sequencing, we discovered a heterozygous mutation at the splicing acceptor site of PRKAR1A exon 6. This splicing mutation causes early termination of transcription, resulting in PRKAR1A haploinsufficiency in the subjects with Carney complex in the family.
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research