{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:37:50Z","timestamp":1789627070265,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T00:00:00Z","timestamp":1496880000000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating\n                    <jats:bold>P<\/jats:bold>\n                    olyneuropathy,\n                    <jats:bold>H<\/jats:bold>\n                    earing loss, cerebellar\n                    <jats:bold>A<\/jats:bold>\n                    taxia,\n                    <jats:bold>R<\/jats:bold>\n                    etinitis pigmentosa, and early\u2010onset\n                    <jats:bold>C<\/jats:bold>\n                    ataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in\n                    <jats:italic>ABHD12<\/jats:italic>\n                    (\u03b1\u2010\u03b2 hydrolase domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23). This mutation was detected in a 36\u2010year\u2010old man, who presented neuropathic symptoms from the age of 15, using a next\u2010generation sequencing panel. This result suggests that the involvement of\n                    <jats:italic>ABHD12<\/jats:italic>\n                    in polyneuropathies is possibly underestimated. We then performed a comparative study of other patients presenting\n                    <jats:italic>ABHD12<\/jats:italic>\n                    mutations and searched for genotype\u2010phenotype correlations and functional explanations in this heterogeneous population.\n                  <\/jats:p>","DOI":"10.1111\/jns.12216","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T14:18:22Z","timestamp":1493302702000},"page":"77-84","source":"Crossref","is-referenced-by-count":26,"title":["A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature"],"prefix":"10.1111","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6228-7591","authenticated-orcid":false,"given":"Justine","family":"Lerat","sequence":"first","affiliation":[{"name":"EA6309 \u2013 Neuropathies P\u00e9riph\u00e9riques et Maintenance My\u00e9linique Universit\u00e9 de Limoges  Limoges France"},{"name":"Service Oto\u2010Rhino\u2010Laryngologie et Chirurgie Cervico\u2010Faciale CHU Dupuytren  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"Explorations Neurophysiologiques, Centre SLA, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire, CHU Toulouse, H\u00f4pital Pierre\u2010Paul Riquet  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Beauvais\u2010Dzugan","sequence":"additional","affiliation":[{"name":"EA6309 \u2013 Neuropathies P\u00e9riph\u00e9riques et Maintenance My\u00e9linique Universit\u00e9 de Limoges  Limoges France"},{"name":"Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Dupuytren  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Magdelaine","sequence":"additional","affiliation":[{"name":"EA6309 \u2013 Neuropathies P\u00e9riph\u00e9riques et Maintenance My\u00e9linique Universit\u00e9 de Limoges  Limoges France"},{"name":"Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Dupuytren  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Sturtz","sequence":"additional","affiliation":[{"name":"EA6309 \u2013 Neuropathies P\u00e9riph\u00e9riques et Maintenance My\u00e9linique Universit\u00e9 de Limoges  Limoges France"},{"name":"Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Dupuytren  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Lia","sequence":"additional","affiliation":[{"name":"EA6309 \u2013 Neuropathies P\u00e9riph\u00e9riques et Maintenance My\u00e9linique Universit\u00e9 de Limoges  Limoges France"},{"name":"Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Dupuytren  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,6,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chembiol.2007.11.006"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1217121110"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22437"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-59"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu424"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M030411"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.02.008"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-1716.2011.02280.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-3539-0_19"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2016.11.008"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415574513"}],"container-title":["Journal 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