{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:24Z","timestamp":1791293124358,"version":"4.1.0"},"reference-count":11,"publisher":"SAGE Publications","issue":"1_suppl","license":[{"start":{"date-parts":[[2015,3,5]],"date-time":"2015-03-05T00:00:00Z","timestamp":1425513600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ann Otol Rhinol Laryngol"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The ABHD12 gene of 2 patients, who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems, were sequenced.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We identified that both cases carried the same novel splice site mutation in the ABHD12 gene. However, 1 had epilepsy and the other had peripheral neuropathy. Based on haplotype analysis, the mutation is likely not a hot spot, but rather could be attributable to a common ancestor.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This study shows that PHARC has phenotypic variability, even within a family, which is consistent with previous reports. Differential diagnosis of \u201cdeaf-blindness\u201d diseases is crucial. Confirming the presence of associated symptoms is necessary for differentiating some deaf-blindness syndromes. In addition, mutation analysis is a useful tool for confirming the diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0003489415574513","type":"journal-article","created":{"date-parts":[[2015,3,5]],"date-time":"2015-03-05T22:23:02Z","timestamp":1425594182000},"page":"77S-83S","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":30,"title":["Novel\n                    <i>ABHD12<\/i>\n                    Mutations in PHARC Patients"],"prefix":"10.1177","volume":"124","author":[{"given":"Hidekane","family":"Yoshimura","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Aizawa Hospital, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshinori","family":"Murata","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiro","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Fukuoka University School of Medicine, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Sugaya","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ya","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan"},{"name":"Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Usami","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan"},{"name":"Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2015,3,5]]},"reference":[{"key":"bibr1-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000333664.90605.23"},{"key":"bibr2-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002"},{"key":"bibr3-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.29"},{"key":"bibr4-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-59"},{"key":"bibr5-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.02.008"},{"key":"bibr6-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22437"},{"key":"bibr7-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21154"},{"issue":"2","key":"bibr8-0003489415574513","first-page":"117","volume":"4","author":"Maceluch JA","year":"2006","journal-title":"Pediatr Endocrinol Rev"},{"key":"bibr9-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(65)90078-X"},{"key":"bibr10-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1086\/346093"},{"key":"bibr11-0003489415574513","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0090688"}],"container-title":["Annals of Otology, Rhinology &amp; Laryngology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0003489415574513","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0003489415574513","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0003489415574513","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:30:44Z","timestamp":1777375844000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0003489415574513"}},"subtitle":["The Differential Diagnosis of Deaf-Blindness"],"short-title":[],"issued":{"date-parts":[[2015,3,5]]},"references-count":11,"journal-issue":{"issue":"1_suppl","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1177\/0003489415574513"],"URL":"https:\/\/doi.org\/10.1177\/0003489415574513","relation":{},"ISSN":["0003-4894","1943-572X"],"issn-type":[{"value":"0003-4894","type":"print"},{"value":"1943-572X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,5]]}}}