{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T00:12:29Z","timestamp":1793059949384,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,20]],"date-time":"2018-02-20T00:00:00Z","timestamp":1519084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>\n                    Spondyloocular syndrome (SOS) is a rare autosomal recessive, skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the\n                    <jats:italic>XYLT2<\/jats:italic>\n                    gene with pleiotropic effects in multiple organs, including retina, heart muscle, inner ear, cartilage, and bone. The\n                    <jats:italic>XYLT2<\/jats:italic>\n                    gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of proteoglycans (PGs) leading to initiating the process of PG assembly. SOS was originally characterized in 2 families A and B of Iraqi and Turkish origin, respectively. Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C\u2009&gt;\u2009T, p.Arg387Trp) and (c.2548G\u2009&gt;\u2009C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the\n                    <jats:italic>XYLT2<\/jats:italic>\n                    gene. In addition, this report has extended the phenotypic description of SOS by adding follow\u2010up data from 5 affected individuals in one of the two families, presented here.\n                  <\/jats:p>","DOI":"10.1111\/cge.13179","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T10:06:51Z","timestamp":1510654011000},"page":"913-918","source":"Crossref","is-referenced-by-count":34,"title":["Homozygous\n                    <i>XYLT2<\/i>\n                    variants as a cause of spondyloocular syndrome"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"M.","family":"Umair","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum Munchen  Neuherberg Germany"},{"name":"Institute of Human Genetics Technische Universitat  Munchen Germany"},{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Eckstein","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum Munchen  Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Rudolph","sequence":"additional","affiliation":[{"name":"University Eye Hospital Ludwig Maximilians University  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum Munchen  Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum Munchen  Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Hendig","sequence":"additional","affiliation":[{"name":"Institute for Laboratory and Transfusion Medicine, Heart and Diabetes, Center North Rhine\u2010Westphalia, University Hospital of the Ruhr University  Ruhr Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hoover","sequence":"additional","affiliation":[{"name":"University Children's Hospital Division of Endocrinology and Diabetology  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Alanay","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technische Universitat  Munchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Meitinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum Munchen  Neuherberg Germany"},{"name":"Institute of Human Genetics Technische Universitat  Munchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"University Eye Hospital Ludwig Maximilians University  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1541-7258","authenticated-orcid":false,"given":"W.","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041433-200410000-00003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2741\/A540"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1369\/0022155412464638"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2000.4261"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1351-y"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.017"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590206.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)02155-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31119"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/75514"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.83"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M611048200"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M611665200"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20100847"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.01.005"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-007-7069-z"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700908104"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2834"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38470"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13179","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T21:40:50Z","timestamp":1694295650000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,20]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1111\/cge.13179"],"URL":"https:\/\/doi.org\/10.1111\/cge.13179","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,20]]}}}