{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Balachandar S"],"funding":["Medical Research Council","NHLBI NIH HHS","National Heart, Lung, and Blood Institute","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["959-964"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9939255"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["188(3)"],"pubmed_abstract":["Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous telangiectasia and nosebleeds. HHT is caused by a heterozygous null allele in ACVRL1, ENG, or SMAD4, which encode proteins mediating bone morphogenetic protein (BMP) signaling. Several missense and stop-gain variants identified in GDF2 (encoding BMP9) have been reported to cause a vascular anomaly syndrome similar to HHT, however none of these patients met diagnostic criteria for HHT. HHT families from UK NHS Genomic Medicine Centres were recruited to the Genomics England 100,000 Genomes Project. Whole genome sequencing and tiering protocols identified a novel, heterozygous GDF2 sequence variant in all three affected membe"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations."],"pmcid":["PMC9939255"],"funding_grant_id":["MC_PC_16018","MR/M009203/1","MC_EX_MR/M009203/1","MC_PC_14089","NF-SI-0512-10113","NF-SI-0617-10154","NF-SI-0616-10083","Imperial Biomedical Research Centre 2017‐2022","R35 HL140019","R35HL140019"],"pubmed_authors":["Curetean E","Sroya M","Thomas E","McConnell VPM","Slade R","Boardman-Pretty F","Shovlin CL","McKee S","McKnight AJ","Thomas GA","Balachandar S","Genomics England Research Consortium","Redhead J","Alton EW","Kerr K","Ferguson T","Xiao S","Caulfield MJ","Alikian M","Fowler TA","Aldred MA","Shimonty A","Graves TJ","Kilner J","Devereau A"],"additional_accession":[]},"is_claimable":false,"name":"Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.","description":"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous telangiectasia and nosebleeds. HHT is caused by a heterozygous null allele in ACVRL1, ENG, or SMAD4, which encode proteins mediating bone morphogenetic protein (BMP) signaling. Several missense and stop-gain variants identified in GDF2 (encoding BMP9) have been reported to cause a vascular anomaly syndrome similar to HHT, however none of these patients met diagnostic criteria for HHT. HHT families from UK NHS Genomic Medicine Centres were recruited to the Genomics England 100,000 Genomes Project. Whole genome sequencing and tiering protocols identified a novel, heterozygous GDF2 sequence variant in all three affected membe","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T00:35:59.327Z","creation":"2025-04-04T00:35:59.327Z"},"accession":"S-EPMC9939255","cross_references":{"pubmed":["34904380"],"doi":["10.1002/ajmg.a.62584"]}}