Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Abstract

Despite the difficulty of interpreting deep intronic variants, our study highlights the importance of non-coding regions in the disease mechanism of HHT, particularly the CT-rich hotspot region of <i>ACVRL1</i>intron 9. The addition of this region to HHT molecular diagnostic testing algorithms will improve clinical sensitivity.