{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T08:44:34Z","timestamp":1790325874805,"version":"4.1.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T00:00:00Z","timestamp":1551744000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2019.00144","type":"journal-article","created":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T05:16:51Z","timestamp":1551763011000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":17,"title":["A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family"],"prefix":"10.3389","volume":"10","author":[{"given":"Mehran","family":"Kausar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine Guo Yan","family":"Chew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazrat","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam","family":"Anees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiea Chuen","family":"Khor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia Nee","family":"Foo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"Makitie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Siddiqi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,3,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations.","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"B2","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1002\/ajmg.a.31119","article-title":"Spondylo-ocular syndrome: a new entity involving the eye and spine.","volume":"140","author":"Alanay","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"B3","first-page":"367","article-title":"Growth centile charts (anthropometric measurement) of Pakistani pediatric population.","volume":"62","author":"Aziz","year":"2012","journal-title":"J. Pak. Med. Assoc."},{"key":"B4","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1369\/0022155412464638","article-title":"An introduction to proteoglycans and their localization.","volume":"60","author":"Couchman","year":"2012","journal-title":"J. Histochem. Cytochem."},{"key":"B5","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes.","volume":"491","author":"Genomes Project","year":"2012","journal-title":"Nature"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/861752","article-title":"Mutations in biosynthetic enzymes for the protein linker region of chondroitin\/dermatan\/heparan sulfate cause skeletal and skin dysplasias.","volume":"2015","author":"Mizumoto","year":"2015","journal-title":"Biomed. Res. Int."},{"key":"B7","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/j.ajhg.2015.04.017","article-title":"Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.","volume":"96","author":"Munns","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1034\/j.1399-0004.2001.590206.x","article-title":"Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred\u2013a possible new syndrome.","volume":"59","author":"Schmidt","year":"2001","journal-title":"Clin. Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins.","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1002\/jbmr.2834","article-title":"Spondyloocular syndrome: novel mutations in XYLT2 gene and expansion of the phenotypic spectrum.","volume":"31","author":"Taylan","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"B11","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1055\/s-0042-118706","article-title":"Abnormal proteoglycan synthesis due to gene defects causes skeletal diseases with overlapping phenotypes.","volume":"48","author":"Taylan","year":"2016","journal-title":"Horm. Metab. Res."},{"key":"B12","doi-asserted-by":"publisher","first-page":"3195","DOI":"10.1002\/ajmg.a.38470","article-title":"Two novel mutations in XYLT2 cause spondyloocular syndrome.","volume":"173","author":"Taylan","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"B13","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1111\/cge.13179","article-title":"Homozygous XYLT2 variants as a cause of spondyloocular syndrome.","volume":"93","author":"Umair","year":"2017","journal-title":"Clin. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00144\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T05:16:52Z","timestamp":1551763012000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00144\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,5]]},"references-count":13,"alternative-id":["10.3389\/fgene.2019.00144"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2019.00144","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,5]]},"article-number":"144"}}