{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T09:02:02Z","timestamp":1775638922186,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>\n                      Hereditary sensory neuropathies (HSN) are a group of heterogenous peripheral neuropathies presenting primarily with distal sensory loss. Biallelic expansions in intron 2 of\n                      <jats:italic>RFC1<\/jats:italic>\n                      (replication factor C subunit 1) can cause autosomal recessive HSN. We aimed to reassess two previously reported families (HSN32 and HSN35) with \u201cautosomal dominant HSN1 with cough and gastroesophageal reflux.\u201d The phenotype was designated HSN1B and linked to chromosome 3p22\u2013p24, although no causative variant was identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Due to the phenotypic similarities between HSN1B and biallelic\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions, targeted long\u2010read sequencing (LRS) of the HSN32 proband was performed.\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansion analysis was then conducted on available individuals from HSN32 and HSN35 using flanking PCR, repeat\u2010primed PCR (RP\u2010PCR), and targeted LRS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      LRS of the proband (Generation III) from HSN32 revealed a novel complex\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansion (AGGGC\n                      <jats:sub>750<\/jats:sub>\n                      AAGGC\n                      <jats:sub>150<\/jats:sub>\n                      ) in trans with a known pathogenic AAGGG\n                      <jats:sub>800<\/jats:sub>\n                      expansion. Extended\n                      <jats:italic>RFC1<\/jats:italic>\n                      analysis showed the proband's affected father (Generation II) reproduced with an unaffected carrier of the novel\n                      <jats:italic>RFC1<\/jats:italic>\n                      AGGGC\n                      <jats:sub>750<\/jats:sub>\n                      AAGGC\n                      <jats:sub>150<\/jats:sub>\n                      expansion to produce the affected proband. Further analysis of the affected father and his four affected siblings (Generation II) identified pathogenic biallelic\n                      <jats:italic>RFC1<\/jats:italic>\n                      AAGGG\n                      <jats:sub>exp<\/jats:sub>\n                      expansions inherited from their carrier parents (Generation I). For family HSN35, both affected individuals previously reported in the second HSN1B family had biallelic AAGGG\n                      <jats:sub>exp<\/jats:sub>\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Affected individuals across consecutive generations in HSN32 resulted in the erroneous mapping of an \u201cautosomal dominant\u201d HSN1B chr3p22\u2010p24 locus. The HSN1B locus should therefore no longer be considered a valid locus for HSN.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70070","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T07:19:43Z","timestamp":1760426383000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pseudodominant Inheritance of Biallelic\n                    <scp>\n                      <i>RFC1<\/i>\n                    <\/scp>\n                    Expansions\u2014Revisiting the 3p22\u2010p24\n                    <scp>HSN1B<\/scp>\n                    Locus"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6926-0551","authenticated-orcid":false,"given":"Bianca R.","family":"Grosz","sequence":"first","affiliation":[{"name":"Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District  Concord Australia"},{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8542-048X","authenticated-orcid":false,"given":"Melina","family":"Ellis","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District  Concord Australia"},{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuchi","family":"Trivedi","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District  Concord Australia"},{"name":"Queensland University of Technology  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9874-3846","authenticated-orcid":false,"given":"Carolin","family":"Scriba","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, QEII Medical Centre  Nedlands Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Stoll","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology  Newcastle Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danqing","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology  Newcastle Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8106-5011","authenticated-orcid":false,"given":"Sanjog R.","family":"Chintalaphani","sequence":"additional","affiliation":[{"name":"Genomic and Inherited Disease Program The Garvan Institute of Medical Research  Darlinghurst Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7713-1979","authenticated-orcid":false,"given":"Igor","family":"Stevanovski","sequence":"additional","affiliation":[{"name":"Genomic and Inherited Disease Program The Garvan Institute of Medical Research  Darlinghurst Australia"},{"name":"Centre for Population Genomics Garvan Institute of Medical Research and Murdoch Children's Research Institute  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2208-5311","authenticated-orcid":false,"given":"Andrea","family":"Cortese","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-7888","authenticated-orcid":false,"given":"Penelope J.","family":"Spring","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"},{"name":"Neurology Department, Concord Repatriation General Hospital, NSW Health Pathology  Concord Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5111-3732","authenticated-orcid":false,"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, QEII Medical Centre  Nedlands Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3861-0472","authenticated-orcid":false,"given":"Ira W.","family":"Deveson","sequence":"additional","affiliation":[{"name":"Genomic and Inherited Disease Program The Garvan Institute of Medical Research  Darlinghurst Australia"},{"name":"St Vincent's Clinical School, Faculty of Medicine University of New South Wales  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0686-905X","authenticated-orcid":false,"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9694-066X","authenticated-orcid":false,"given":"Garth A.","family":"Nicholson","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology  Newcastle Australia"},{"name":"Neurology Department, Concord Repatriation General Hospital, NSW Health Pathology  Concord Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3482-6962","authenticated-orcid":false,"given":"Kishore R.","family":"Kumar","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology  Newcastle Australia"},{"name":"Neurology Department, Concord Repatriation General Hospital, NSW Health Pathology  Concord Australia"},{"name":"School of Clinical Medicine, Faculty of Medicine and Health, UNSW Medicine &amp; Health, St Vincents Healthcare Clinical Campus University of New South Wales  Sydney Australia"},{"name":"Translational Neurogenomics Group, Genomic and Inherited Disease Program Garvan Institute of Medical Research  Darlinghurst Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8323-873X","authenticated-orcid":false,"given":"Steve","family":"Vucic","sequence":"additional","affiliation":[{"name":"Brain and Nerve Research Center, Concord Clinical School University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3332-5074","authenticated-orcid":false,"given":"Marina L.","family":"Kennerson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District  Concord Australia"},{"name":"School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Camperdown Australia"},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology  Newcastle Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/85879"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/85817"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.010"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.830"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWAB072"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010744"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/S41588\u2010019\u20100372\u20104"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.AJHG.2019.05.016"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2019.01219"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWAB363"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAINCOMMS\/FCAD208"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010024\u201001735\u20105"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15310"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000682"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/377591"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh653"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWAA263"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587\u2010020\u201000746\u2010x"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/SCIADV.ABM5386"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/S41587\u2010021\u201001147\u20104"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/BIOINFORMATICS\/BTAD352"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty191"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/NBT.1754"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/S41587\u2010019\u20100072\u20108"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010019\u201012493\u2010y"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWAD240"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWAA203"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/NAR\/GKAE032"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/ENE.16018"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011528"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.CHEST.2022.11.014"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70070","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70070","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70070","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:19:23Z","timestamp":1775636363000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,14]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/jns.70070"],"URL":"https:\/\/doi.org\/10.1111\/jns.70070","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,14]]},"assertion":[{"value":"2025-08-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70070"}}