{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pagnamenta AT"],"funding":["NIH National Institute of Neurological Disorders and Stroke","MDUK","Swedish Research Council","CMMC fellowship","NHS England","Sidra Medicine Internal Research Fund","Cancer Research UK and the Medical Research Council","Deutsche Forschungsgemeinschaft","MRC and the Biomedical Research Centres at UCL and UCLH","Medical Research Council","European Union’s Seventh Framework Programme for research","National Institute for Health Research (NIHR)","NIHR Biomedical Research Centre Oxford","Muscular Dystrophy UK","MRC, Ataxia","Wellcome Trust","National Health Service as part of their care and support"],"pagination":["584-600"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8263055"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["144(2)"],"pubmed_abstract":["The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length "],"journal":["Brain : a journal of neurology"],"pubmed_title":["An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy."],"pmcid":["PMC8263055"],"funding_grant_id":["MR/M009203/1","Wi 945/19-1","MC_PC_14089","Wi 945/18-1","NF-SI-0515-10022","NF-SI-0617-10154","RA4/0924","MR/T001712/1","HDR-9004","MR/S006753/1","203141/Z/16/Z","MC_EX_MR/M009203/1","608473","18GRO-PG24-0271","IRF-2019, SDR400034","CMMC C18"],"pubmed_authors":["Stevens HE","Taylor JC","Cortese A","Craig CEH","Chan GC","Williams E","Bonnemann CG","Sultana R","Smith KR","Boissiere JM","Maroofian R","Walsh E","Maleady-Crowe F","Lahnstein L","Hubbard TJP","Foley AR","Welland MJ","Muraresku CC","Stuckey A","Gutowski N","Zarowiecki M","Caulfield MJ","Hamblin A","Mueller M","O'Donovan P","Orioli A","Donkervoort S","Ambrose JC","Scott RH","Spooner W","Sarkozy A","McDonagh EM","Tucci A","Da'as SI","Bleda M","Leigh SEA","Patch C","Thomas ERA","Jones LJ","Mason J","Arumugam P","Riesgo-Ferreiro P","Henderson S","Polychronopoulos D","Dominik N","Lawson K","Tajsharghi H","Halai D","Murugaesu N","Leong IUS","Kousathanas A","Witkowska K","Jungbluth H","Tanguy M","Smith SC","Giess A","Rendon A","Lauffer M","Perez-Gil D","Boustred CR","Siddiq A","Rankin J","Odhams CA","Yip J","Devereau A","Wood SM","Medne L","O'Driscoll M","Savage K","Neuhaus SB","Fowler T","Kaiyrzhanov R","Daugherty LC","Tregidgo C","Pullinger J","Basiri K","Ferla MP","Lavin T","Fakhro KA","Ansari B","Fernandez-Garcia MA","Genomics England Research Consortium","Houlden H","Watters SA","Barresi R","Nemeth AH","Wunderlich G","Burca A","Elgar G","Holman JE","Sieghart A","Yum SW","Wirth B","Sedghi M","Reilly MM","Brusius I","Moutsianas L","Brittain H","Kasperaviciute D","Ryten M","Marcelis C","Hackett JM","Pereira MB","Rogers T","Boardman-Pretty F","Lassche S","Zou Y","Baple EL","Kayikci M","Thompson SR","Ibanez K","Millan F","Moslemi AR","Smedley D","Pagnamenta AT","Furio-Tari P","Norwood F","Jackson R","Marks P","Lopez JF","Karakaya M","Sosinsky A","Muntoni F","Foulger RE","Need AC","Sawant K","Beetz C","Marini-Bettolo C","O'Donnell M","Zolkipli-Cunningham Z","Rahim T"],"additional_accession":[]},"is_claimable":false,"name":"An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.","description":"The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2026-06-11T03:21:11.214Z","creation":"2022-02-10T18:48:09.112Z"},"accession":"S-EPMC8263055","cross_references":{"pubmed":["33559681"],"doi":["10.1093/brain/awaa420"]}}