{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:55:53Z","timestamp":1790394953589,"version":"4.1.0"},"reference-count":18,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Introduction:<\/i><\/b> Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and\/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital or acquired causes. <b><i>Methods:<\/i><\/b> We found a disease-segregating mutation in the X-linked <i>AIFM1<\/i> gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion-associated 1. <b><i>Results:<\/i><\/b> The impact of the c.1045A&#x3e;G; p.(Ser349Gly) mutation on the AIFM1 protein was predicted using different bioinformatics tools. The pedigree analysis in the examined family was consistent with X-linked dominant inheritance. <b><i>Discussion\/Conclusion:<\/i><\/b> To our knowledge, this is the first study that identifies a mutation in the <i>AIFM1<\/i> gene in Moroccan patients suffering from X-linked auditory neuropathy. <\/jats:p>","DOI":"10.1159\/000512712","type":"journal-article","created":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T22:01:36Z","timestamp":1611352896000},"page":"35-39","source":"Crossref","is-referenced-by-count":8,"title":["Novel Mutation in <b><i>AIFM1<\/i><\/b> Gene Associated with X-Linked Deafness in a Moroccan Family"],"prefix":"10.1159","volume":"85","author":[{"given":"Soukaina","family":"Elrharchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zied","family":"Riahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Salime","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hicham","family":"Charoute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamiae","family":"Elkhattabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Redouane","family":"Boulouiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Kabine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crystel","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Petit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelhamid","family":"Barakat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,1,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-016-2735-5"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2009.06.003"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.12.004"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2009.03.009"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.141"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.05.002"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0138072"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.07.075"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-012-2003-3"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.06.008"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2009.12.008"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2012.12.002"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.03.002"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.008"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.020"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2015.01.001"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12792"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102961"}],"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/512712","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/512712","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:06:12Z","timestamp":1745424372000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000512712"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,3,2]]},"published-print":{"date-parts":[[2021,3,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000512712","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"value":"0001-5652","type":"print"},{"value":"1423-0062","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}