Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in

• Tác giả: Evon DeBose-Scarlett, Cassi Friday, James R Gossage, Douglas A Marchuk, Kara K Prickett, Andrew K Ressler, James W Roberts
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Journal of medical genetics , 2025
• Bộ sưu tập: NCBI
• ID: 721840

Tóm tắt

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations. It is caused by inherited loss-of-function mutations in one of three genes, METHODS: We sequenced DNA from the AVM using a targeted gene sequencing panel to at least 1000X to identify somatic mutations that might contribute to the development of the AVM. We analysed whole genome SNP genotyping data using the algorithm Mosaic Chromosomal Alterations (MoChA) to identify somatic loss of heterozygosity. RESULTS: We confirmed the germline mutation in CONCLUSION: We identified biallelic loss of function of