{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T21:05:57Z","timestamp":1783458357933,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Leber hereditary optic neuropathy (LHON) is characterized by vision loss due to the degeneration of retinal ganglion cells. LHON\u2010Plus refers to LHON with additional extraocular findings. Neurological conditions observed in LHON\u2010Plus include seizures, encephalopathy, movement disorders, neuropathy, and myopathy. Herein, we present a case with atypical LHON\u2010Plus caused by a novel <jats:italic>DNAJC30<\/jats:italic> disease\u2010causing gene variant. A 15\u2010year\u2010old boy presented with acute headache, and blurred and decreased vision in both eyes. Although initial evaluation pointed toward idiopathic intracranial hypertension, the subsequent diagnostic process revealed unusual features like area postrema syndrome and T2 hyperintensity in brain magnetic resonance imaging. Consequently, antibody\u2010negative neuromyelitis optica spectrum disorder (NMOSD) was diagnosed and treatment was commenced. Recurrent episodes of elevated intracranial pressure necessitated the insertion of a ventriculoperitoneal shunt. Exome sequencing (ES) revealed a novel homozygous variant in the <jats:italic>DNAJC30<\/jats:italic> gene 2\u2009years after symptom onset. Atypical LHON presentations due to nuclear gene mutations may mimic other neuroinflammatory conditions like NMOSD, necessitating thorough clinical evaluation and genetic testing. ES plays a crucial role in diagnosing complex neurological cases, enabling the identification of novel genetic variants associated with LHON and related disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.63902","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T12:59:39Z","timestamp":1728997179000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An Unusual Presentation of Leber Hereditary Optic Neuropathy\u2010Plus Case Caused by a Novel <i>DNAJC30<\/i> Variant"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8746-8372","authenticated-orcid":false,"given":"H\u00fcseyin Bahad\u0131r","family":"\u015eenol","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eylul University Faculty of Medicine  \u0130zmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0832-3512","authenticated-orcid":false,"given":"Didem","family":"Soydemir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eylul University Faculty of Medicine  \u0130zmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8270-3249","authenticated-orcid":false,"given":"Ay\u015fe \u0130pek","family":"Polat","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eylul University Faculty of Medicine  \u0130zmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8480-2857","authenticated-orcid":false,"given":"Adem","family":"Ayd\u0131n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eylul University Faculty of Medicine  \u0130zmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8020-4884","authenticated-orcid":false,"given":"Ay\u015fe Semra","family":"H\u0131z","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eylul University Faculty of Medicine  \u0130zmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8355-1411","authenticated-orcid":false,"given":"Ulu\u00e7","family":"Yi\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eylul University Faculty of Medicine  \u0130zmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041327\u2010199903000\u201000007"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000001151"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2018.3207"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.2147\/IMCRJ.S303460"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/1352458515590649"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104212"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040521"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-004-0347-8"},{"key":"e_1_2_11_10_1","volume-title":"Ophthalmology Clinics of North America| Ophthalmology Clinics of North America","author":"Goldberg I.","year":"1992"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad131"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13398"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.162"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0b013e318225247b"},{"key":"e_1_2_11_15_1","first-page":"1001","article-title":"Coincidence of Idiopathic Intracranial Hypertension and Leber Hereditary Optic Neuropathy. 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