{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:39:51Z","timestamp":1789990791271,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,9,4]],"date-time":"2016-09-04T00:00:00Z","timestamp":1472947200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DNA methyltransferase 1 (<jats:italic>DNMT1<\/jats:italic>) is an enzyme which has a role in methylation of DNA, gene regulation, and chromatin stability. Missense mutations in the <jats:italic>DNMT1<\/jats:italic> gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA\u2010DN). We report a case showing overlap of both of these syndromes plus associated clinical features of common variable immune deficiency, scleroderma, and endocrinopathy that could also be mutation associated. Our patient was found to be heterozygous for a previously unreported frameshift mutation, c.1635_1637delCAA p.(Asn545del) in the <jats:italic>DNMT1<\/jats:italic> gene exon 20. This case displays both the first frameshift mutation described in the literature which is associated with a phenotype with a high degree of overlap between HSAN1E and ADCA\u2010DN and early age of onset (c. 8 years). Our case is also of interest as the patient displays a number of new non\u2010neurological features, which could also be <jats:italic>DNMT1<\/jats:italic> mutation related.<\/jats:p>","DOI":"10.1111\/jns.12178","type":"journal-article","created":{"date-parts":[[2016,6,9]],"date-time":"2016-06-09T16:01:36Z","timestamp":1465488096000},"page":"150-153","source":"Crossref","is-referenced-by-count":12,"title":["A novel <i>DNMT1<\/i> mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency"],"prefix":"10.1111","volume":"21","author":[{"given":"Robin","family":"Fox","sequence":"first","affiliation":[{"name":"Department of Neurology Salford Royal NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Ealing","sequence":"additional","affiliation":[{"name":"Department of Neurology Salford Royal NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Murphy","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine St Mary's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David P.","family":"Gow","sequence":"additional","affiliation":[{"name":"Department of Neurology Dunedin Public Hospital  Dunedin New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gosal","sequence":"additional","affiliation":[{"name":"Department of Neurology Salford Royal NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,4]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv010"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.12.1077"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2011.02.003"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318284076d"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu069"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-09-377945"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.156562"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-06-091744"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds035"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns5.12012"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjns.12178","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjns.12178","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12178","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T08:13:09Z","timestamp":1696234389000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12178"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1111\/jns.12178"],"URL":"https:\/\/doi.org\/10.1111\/jns.12178","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9]]}}}