{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:32:36Z","timestamp":1792272756499,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with\n                    <jats:italic>HINT1<\/jats:italic>\n                    pathogenic variations were described in 33 families sharing the same phenotype characterized by an axonal neuropathy with neuromyotonia and autosomal recessive inheritance (NMAN: OMIM #137200)\n                    <jats:italic>.<\/jats:italic>\n                    Histidine Triad Nucleotide Binding Protein 1 regulates transcription, cell\u2010cycle control, and is possibly involved in neuropsychiatric pathophysiology. Herein, we report seven French patients with NMAN identified by Next Generation Sequencing. We conducted a literature review and compared phenotypic and genotypic features with our cohort. We identified a new\n                    <jats:italic>HINT1<\/jats:italic>\n                    pathogenic variation involved in NMAN: c.310G&gt;C p.(Gly104Arg). This cohort is comparable with literature data regarding age of onset (7,4yo), neuronal involvement (sensorimotor 3\/7 and motor pure 4\/7), and skeletal abnormalities (scoliosis 3\/7, feet anomalies 6\/7). We expand the phenotypic spectrum of\n                    <jats:italic>HINT1<\/jats:italic>\n                    \u2010related neuropathy by describing neurodevelopmental or psychiatric features in six out of seven individuals such as generalized anxiety disorder (GAD), obsessive\u2013compulsive disorder (OCD), mood disorder and attention deficit hyperactivity disorder (ADHD). However, only 3\/128 previously described patients had neuropsychiatric symptomatology or neurodevelopmental disorder. These features could be part of\n                    <jats:italic>HINT1<\/jats:italic>\n                    \u2010related disease, and we should further study the clinical phenotype of the patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.14198","type":"journal-article","created":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T22:08:15Z","timestamp":1658873295000},"page":"379-390","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<scp>HINT1<\/scp>\n                    neuropathy: Expanding the genotype and phenotype spectrum"],"prefix":"10.1111","volume":"102","author":[{"given":"Victor","family":"Morel","sequence":"first","affiliation":[{"name":"APHM, CHU Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Campana\u2010Salort","sequence":"additional","affiliation":[{"name":"APHM, CHU Timone Centre de r\u00e9f\u00e9rence des Maladies Neuromusculaires et de la SLA, ERN\u2010NMD  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amandine","family":"Boyer","sequence":"additional","affiliation":[{"name":"APHM, CHU Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Esselin","sequence":"additional","affiliation":[{"name":"CHU Montpellier Centre de r\u00e9f\u00e9rence des Maladies du Motoneurone et des Maladies Neuromusculaires  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Walther\u2010Louvier","sequence":"additional","affiliation":[{"name":"CHU Montpellier, Service de Neurop\u00e9diatrie Centre de r\u00e9f\u00e9rence des Maladies Neuromusculaires AOC (Atlantique\u2010Occitanie\u2010Cara\u00efbe)  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Querin","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires Nord\/Est\/Ile de France  Paris France"},{"name":"Institut de Myologie I\u2010Motion clinical trials platform H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Latour","sequence":"additional","affiliation":[{"name":"CHU de Lyon, GH Est Service de Biochimie et Biologie Mol\u00e9culaire Grand Est  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Lia","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Magdelaine","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Beze\u2010Beyrie","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie H\u00f4pital de Pau  Pau France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Behin","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires Nord\/Est\/Ile de France  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Delague","sequence":"additional","affiliation":[{"name":"INSERM, MMG, U 1251, Marseille, France Aix Marseille Univ  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Levy","sequence":"additional","affiliation":[{"name":"APHM, CHU Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale  Marseille France"},{"name":"INSERM, MMG, U 1251, Marseille, France Aix Marseille Univ  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires Nord\/Est\/Ile de France  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"APHM, CHU Timone Centre de r\u00e9f\u00e9rence des Maladies Neuromusculaires et de la SLA, ERN\u2010NMD  Marseille France"},{"name":"INSERM, MMG, U 1251, Marseille, France Aix Marseille Univ  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Bonello\u2010Palot","sequence":"additional","affiliation":[{"name":"APHM, CHU Timone D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale  Marseille France"},{"name":"INSERM, MMG, U 1251, Marseille, France Aix Marseille Univ  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020318"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2406"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513452200"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.24670"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.615922"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2019.7724"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035\u2010020\u201002265\u2010x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom11111681"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/tpj.2010.41"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012770"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001746\u2010z"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1783"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883\u2010022\u201002690\u20106"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.003"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010019\u201005238\u2010z"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010019\u201000591\u20104"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003\u20109406.2019.08.016"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010015\u20107851\u2010z"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.231"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24774"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010014\u20100427\u20108"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24720"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11121616"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.05.001"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.009"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100035\u20101570493"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2016.07.012"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12473"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.01.003"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/318212"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2011.02.012"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2020.05.018"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exger.2021.111683"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2008.08.006"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2015.08.026"}],"container-title":["Clinical 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