{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:59:26Z","timestamp":1760785166091,"version":"3.41.2"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tatton\u2013Brown\u2013Rahman syndrome (TBRS) is a rare autosomal dominant overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA methyltransferase 3A (<jats:italic>DNMT3A<\/jats:italic>) gene. All individuals reported to date share a phenotype of somatic overgrowth, dysmorphic features, and intellectual disability. Peripheral neuropathy was not described in these cases. We report an adult patient with TBRS caused by a novel pathogenic <jats:italic>DNMT3A<\/jats:italic> variant (NM_175629.2: c.2036G&gt;A, p.(Arg688His)) harboring an axonal length\u2010dependent sensory\u2010motor polyneuropathy. Extensive laboratory and molecular genetic work\u2010up failed to identify alternative causes for this patient's neuropathy. We propose that axonal neuropathy may be a novel, age\u2010dependent phenotypic feature in adults with TBRS and suggest that this syndrome should be considered in the differential diagnosis of patients with overgrowth, cognitive and psychiatric difficulties, and peripheral neuropathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63484","type":"journal-article","created":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T16:55:18Z","timestamp":1701536118000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["An adult patient with <scp>Tatton\u2013Brown\u2013Rahman<\/scp> syndrome caused by a novel <scp><i>DNMT3A<\/i><\/scp> variant and axonal polyneuropathy"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4159-5050","authenticated-orcid":false,"given":"Al\u2010Alya","family":"AlSabah","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University Montreal Neurological Institute and Hospital  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Alsalmi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University Montreal Neurological Institute and Hospital  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8219-1020","authenticated-orcid":false,"given":"Rami","family":"Massie","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University Montreal Neurological Institute and Hospital  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Claude","family":"Bilodeau","sequence":"additional","affiliation":[{"name":"Clinique de Psychiatrie, Sant\u00e9 Mentale et D\u00e9pendances, CIUSSS MCQ, H\u00f4pital Sainte\u2010Croix  Drummondville Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9713-7107","authenticated-orcid":false,"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier Universitaire Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3504-8253","authenticated-orcid":false,"given":"Serge","family":"McGraw","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier Universitaire Sainte\u2010Justine  Montreal Quebec Canada"},{"name":"Department of Obstetrics and Gynecology Universit\u00e9 de Montreal  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1837-9357","authenticated-orcid":false,"given":"Maria Daniela","family":"D'Agostino","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Departments of Human Genetics and Medicine McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12782"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.21451\/1984-3143-AR2019-0062"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2018.00140"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.008"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.243584.118"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3230"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/cbic.201000195"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02633"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdf401"},{"volume-title":"GeneReviews\u00ae","year":"2019","author":"Klein C. J.","key":"e_1_2_8_11_1"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000000927"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14426"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/biolre\/ioy026"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2017.80"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2199-4-7"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab111"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003873"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1386"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-015-1618-x"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.aao5838"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10050369"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(00)81656-6"},{"volume-title":"GeneReviews\u00ae","year":"2022","author":"Ostrowski P. J.","key":"e_1_2_8_24_1"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513819609168713"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-24800-7"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814545113"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.26508\/lsa.202201527"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2917"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0485-3"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.013"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13480"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04431"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M413116200"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T05:40:20Z","timestamp":1719553220000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/ajmg.a.63484"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63484","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"2023-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63484"}}