{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T23:12:20Z","timestamp":1793229140313,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,7]],"date-time":"2020-03-07T00:00:00Z","timestamp":1583539200000},"content-version":"am","delay-in-days":331,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T00:00:00Z","timestamp":1554940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["17kk0205002"],"award-info":[{"award-number":["17kk0205002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","award":["KAKENHI 17k10069"],"award-info":[{"award-number":["KAKENHI 17k10069"]}],"id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","award":["KAKENHI 18H06218"],"award-info":[{"award-number":["KAKENHI 18H06218"]}],"id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey\u2010wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (<jats:italic>CANT1<\/jats:italic> encoding calcium\u2010activated nucleotidase\u20101 and <jats:italic>XYLT1<\/jats:italic> encoding xylosyltransferase\u20101) have been reported. We propose a novel gene for neonatal short limb dysplasia resembling DBQD, based on the phenotype and genotype of two affected siblings. The affected boy and girl died in early infancy and shortly after birth, respectively. The clinical hallmarks included mid\u2010face hypoplasia, thoracic hypoplasia with respiratory failure, very short stature (approximately \u22127 SD of birth length) with mesomelic shortening of the limbs, and multiple dislocations of the large joints. Radiological examinations showed prominent lesser trochanter, flared metaphyses of the long bones, and joint dislocations. The affected boy had preaxial digital hypoplasia, and the affected girl showed overlapping and syndactyly of the preaxial digits. Molecular analyses of the girl showed compound heterozygous variants in <jats:italic>FAM20B<\/jats:italic> (NM_014864: c.174_178delTACCT p.T59Afs*19\/c.1038delG p.N347Mfs*4). <jats:italic>FAM20B<\/jats:italic> encodes glycosaminoglycan xylosylkinase, which acts downstream of xylosyltransferase\u20101. Given the fact that <jats:italic>FAM20B<\/jats:italic> deficiency causes skeletal phenotypes in mice and zebrafish, these variants are highly probable to be pathogenic.<\/jats:p>","DOI":"10.1111\/cge.13530","type":"journal-article","created":{"date-parts":[[2019,3,8]],"date-time":"2019-03-08T06:19:31Z","timestamp":1552025971000},"page":"713-717","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["A novel gene (<i>FAM20B<\/i> encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8420-6070","authenticated-orcid":false,"given":"Yukiko","family":"Kuroda","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama 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