{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T04:22:59Z","timestamp":1789878179722,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,21]],"date-time":"2017-03-21T00:00:00Z","timestamp":1490054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006013","name":"United Arab Emirates University","doi-asserted-by":"publisher","award":["31M241"],"award-info":[{"award-number":["31M241"]}],"id":[{"id":"10.13039\/501100006013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous splice site variant in <jats:italic>COL27A1<\/jats:italic> (c.3556\u20102A&gt;G) in a consanguineous Emirati family with a child affected by Steel syndrome. In addition, the affected child had severe non\u2010progressive sensorineural hearing loss not reported previously. The variant segregated in the family in an autosomal recessive manner and we show that the variant alters mRNA splicing. Furthermore, relative quantitative analysis revealed a marked reduction in gene expression in the proposita compared to healthy controls. Segregation analysis of heterozygous variants, related to hearing loss, identified by whole exome sequencing in the child (<jats:italic>ILDR1<\/jats:italic>: c.1159T&gt;C, <jats:italic>SYNE4<\/jats:italic>: c.313G&gt;C, and <jats:italic>GPR98<\/jats:italic>: c.18746T&gt;G) excluded them from being responsible for the hearing loss in the proposita. In addition, the products of these genes are not interacting in the same pathway and have only been reported to cause deafness in an autosomal recessive manner. Therefore, we conclude that the novel splice\u2010site variant identified in <jats:italic>COL27A1<\/jats:italic> is the most likely cause for Steel syndrome in this family and that the hearing loss is part of this syndrome's phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38153","type":"journal-article","created":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T05:16:47Z","timestamp":1490159807000},"page":"1257-1263","source":"Crossref","is-referenced-by-count":24,"title":["A novel aberrant splice site mutation in <i>COL27A1<\/i> is responsible for Steel syndrome and extension of the phenotype to include hearing loss"],"prefix":"10.1002","volume":"173","author":[{"given":"Nesrin","family":"Gariballa","sequence":"first","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afif","family":"Ben\u2010Mahmoud","sequence":"additional","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makanko","family":"Komara","sequence":"additional","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha M.","family":"Al\u2010Shamsi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"John","sequence":"additional","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam R.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2029-2218","authenticated-orcid":false,"given":"Lihadh","family":"Al\u2010Gazali","sequence":"additional","affiliation":[{"name":"Department of Paediatrics College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01734.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.6.2411"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(91)90380-O"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1561"},{"issue":"61","key":"e_1_2_7_7_1","first-page":"1","article-title":"Mutation of COL11A2 causes autosomal recessive non\u2010syndromic hearing loss at the DFNB53 locus","volume":"42","author":"Chen W.","year":"2005","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0008481"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e3181d3e464"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(87)90027-9"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2003.08.002"},{"issue":"23","key":"e_1_2_7_13_1","first-page":"342","article-title":"Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population","volume":"3","author":"Gonzaga\u2010Jauregui C.","year":"2014","journal-title":"European Journal of Human Genetics"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btg1015"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.10.4583"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(03)00007-6"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O"},{"key":"e_1_2_7_19_1","article-title":"Collagen XXVII organises the pericellular matrix in the growth plate","volume":"9422","author":"Plumb D. 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