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• W2890738691 abstract "Introduction Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG , ACVRL1 , and SMAD4. Yet the genetic cause remains unknown for some families even after exhaustive exome analysis. We hypothesised that non-coding regions of the known HHT genes may harbour variants that disrupt splicing in these cases. Methods DNA from 35 individuals with clinical findings of HHT and 2 healthy controls from 13 families underwent whole genome sequencing. Additionally, 87 unrelated cases suspected to have HHT were evaluated using a custom designed next-generation sequencing panel to capture the coding and non-coding regions of ENG , ACVRL1 and SMAD4 . Individuals from both groups had tested negative previously for a mutation in the coding region of known HHT genes. Samples were sequenced on a HiSeq2500 instrument and data were analysed to identify novel and rare variants. Results Eight cases had a novel non-coding ACVRL1 variant that disrupted splicing. One family had an ACVRL1 intron 9:chromosome 3 translocation, the first reported case of a translocation causing HHT. The other seven cases had a variant located within a ~300 bp CT-rich ‘hotspot’ region of ACVRL1 intron 9 that disrupted splicing. Conclusions 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 ACVRL1 intron 9. The addition of this region to HHT molecular diagnostic testing algorithms will improve clinical sensitivity." @default.
• W2890738691 created "2018-09-27" @default.
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• W2890738691 date "2018-09-22" @default.
• W2890738691 modified "2023-10-18" @default.
• W2890738691 title "Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic Telangiectasia" @default.
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• W2890738691 doi "https://doi.org/10.1136/jmedgenet-2018-105561" @default.
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