{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T21:05:48Z","timestamp":1782248748435,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T00:00:00Z","timestamp":1531699200000},"content-version":"vor","delay-in-days":15,"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":[[2018,7]]},"abstract":"<jats:p>Ocular albinism type 1 (OA1) is caused by mutations in the <jats:italic>GPR143<\/jats:italic> gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. OA1 associated with late\u2010onset sensorineural hearing loss was previously reported in a single family and hypothesized to be caused by a contiguous gene deletion syndrome involving <jats:italic>GPR143<\/jats:italic> and the adjacent gene, <jats:italic>TBL1X<\/jats:italic>. Here, we report on a family with OA1, infertility, late\u2010onset sensorineural hearing loss, and a small interstitial Xp microdeletion including the <jats:italic>GPR143<\/jats:italic>, <jats:italic>TBL1X<\/jats:italic>, and <jats:italic>SHROOM2<\/jats:italic> genes. In addition, we re\u2010examined a patient previously described with OA1, infertility and a similar Xp deletion with audiologic follow\u2010up showing a late\u2010onset sensorineural hearing loss. Our results raise an intriguing question about the possibility for <jats:italic>TBL1X<\/jats:italic> (absence) involvement in this type of hearing loss. However, our study cannot claim a causative relationship and more convincing evidence is needed before the hypothesis can be accepted that <jats:italic>TBL1X<\/jats:italic> could be involved in late\u2010onset sensorineural hearing loss and that ocular albinism with late\u2010onset sensorineural hearing loss can present itself as a contiguous gene deletion\/microdeletion syndrome. The finding of infertility in all affected male patients demonstrates that this deletion, including the <jats:italic>SHROOM2<\/jats:italic> gene, may be a potentially causative X\u2010linked genetic factor of male infertility.<\/jats:p>","DOI":"10.1002\/ajmg.a.38836","type":"journal-article","created":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T06:43:12Z","timestamp":1531809792000},"page":"1587-1593","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Ocular albinism with infertility and late\u2010onset sensorineural hearing loss"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5637-3023","authenticated-orcid":false,"given":"Bj\u00f8rn K.","family":"Fabian\u2010Jessing","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Else Marie","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid S.","family":"Plomp","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur A.","family":"Bergen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter A.","family":"Dreschler","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery Academic Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata S.","family":"Winiarska","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Neumann","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Gaihede","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"},{"name":"Department of Otolaryngology, Head and Neck Surgery Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Vorum","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael B.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-323-05283-2.00150-6"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.4.647"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302408"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-13"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.4.222"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1992.15"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2531"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26150"},{"key":"e_1_2_7_10_1","first-page":"3380","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"King R. 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