{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:43:39Z","timestamp":1790027019444,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T00:00:00Z","timestamp":1395705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>As a major component of the extracellular matrix, proteoglycans influence the mechanical properties of connective tissue and play an important role in cell\u2010cell and cell\u2010matrix interactions. Genetic defects of proteoglycan biosynthesis lead to multi\u2010system disorders, often most prominently affecting the skeletal system and skin. Specific deficiencies in the enzymes involved in the biosynthesis of the linkage region between the core of the proteoglycan protein and its glycosaminoglycan side chains are known as linkeropathies. We report on a patient from a second family with a homozygous c.830G&gt;A (p.Arg277Gln) mutation in the <jats:italic>B3GAT3<\/jats:italic> gene. The clinical features expand the previously reported phenotype of <jats:italic>B3GAT3<\/jats:italic> mutations and of linkeropathies in general. This patient has short stature, facial dysmorphisms, skeletal findings, joint laxity, and cardiac manifestations similar to those previously associated with <jats:italic>B3GAT3<\/jats:italic> mutations. However, he also has developmental delay, a refractive errors, dental defects, pectus carinatum, and skin abnormalities that have only been associated with linkeropathies caused by mutations in <jats:italic>B4GALT6<\/jats:italic> and <jats:italic>B4GALT7<\/jats:italic>. He has bilateral inguinal hernias and atlanto\u2010axial as well as atlanto\u2010occipital instability that have not been previously associated with <jats:italic>B3GAT3<\/jats:italic> mutations. We provide a detailed clinical report and a comparative overview of the phenotypic features of the linkeropathies caused by mutations in <jats:italic>B3GAT3<\/jats:italic>, <jats:italic>B4GALT6<\/jats:italic>, and <jats:italic>B4GALT7<\/jats:italic>. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36487","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T17:08:41Z","timestamp":1395767321000},"page":"1580-1586","source":"Crossref","is-referenced-by-count":38,"title":["Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5\u2010year\u2010old boy\u2014Report of the second family with <i>B3GAT3<\/i> mutation and expansion of the phenotype"],"prefix":"10.1002","volume":"164","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0631-1435","authenticated-orcid":false,"given":"Julia E.","family":"von Oettingen","sequence":"first","affiliation":[{"name":"Division of Endocrinology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Hann","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Genetics Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dauber","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Boston Children's Hospital Boston Massachusetts"},{"name":"Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.021"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.68.1.729"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05817"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.71.110601.135458"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36128"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1681"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.73.011303.074043"},{"key":"e_1_2_6_10_1","first-page":"436","article-title":"Glycosaminoglycan\u2010free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid","volume":"41","author":"Kresse H","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.20"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R112.437038"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.20"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/35008000"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0705807105"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.4.1342"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.01.009"},{"key":"e_1_2_6_18_1","first-page":"717","article-title":"Biosynthesis of chondroitin sulfate. Purification of UDP\u2010D\u2010xylose: Core protein 1\u2010D\u2010xylotransferase by affinity chromatography","volume":"56","author":"Schwartz NB","year":"1974","journal-title":"Carbohydr Res"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2007.04849.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sbi.2007.08.015"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36487","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T21:36:21Z","timestamp":1696628181000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,25]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1002\/ajmg.a.36487"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36487","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,25]]}}}