{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:23:01Z","timestamp":1791278581513,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","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":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Proteoglycans are components of the extracellular matrix with diverse biological functions. Defects in proteoglycan synthesis have been linked to several human diseases with common features of short stature, hypermobility, joint dislocations, and skeletal dysplasia.<jats:italic>B4GALT7<\/jats:italic>encodes galactosyltransferase\u2010I that catalyzes the addition of a galactose moiety to a xylosyl group in the tetrasaccharide linker of proteoglycans. Mutations in this gene have been associated with the rare progeroid form of Ehlers Danlos syndrome and in addition more recently found to underlie Larsen of Reunion Island syndrome. Nine individuals have been reported with a diagnosis of the progeroid form of Ehlers Danlos syndrome, four of whom have had molecular characterization showing homozygous or compound heterozygous mutations in<jats:italic>B4GALT7<\/jats:italic>. We report two newly described patients with compound heterozygous mutations in<jats:italic>B4GALT7<\/jats:italic>, and show that the six individuals with confirmed mutations do not have the progeroid features described in the original five patients with a clinical diagnosis of the progeroid form of Ehlers Danlos syndrome. We suggest that galactosyltransferase\u2010I deficiency does not cause the progeroid form of Ehlers Danlos syndrome, but instead results in a clinically recognizable syndrome comprising short stature, joint hypermobility, radioulnar synostosis, and severe hypermetropia. This group of syndromic patients are on a phenotypic spectrum with individuals who have Larsen of Reunion Island syndrome, although the key features of osteopenia, fractures and hypermetropia have not been reported in patients from Reunion Island. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37604","type":"journal-article","created":{"date-parts":[[2016,3,5]],"date-time":"2016-03-05T16:57:14Z","timestamp":1457197034000},"page":"1556-1563","source":"Crossref","is-referenced-by-count":35,"title":["Further defining the phenotypic spectrum of<i>B4GALT7<\/i>mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Claire G.","family":"Salter","sequence":"first","affiliation":[{"name":"West Midlands Regional Genetics Service Birmingham Women's Hospital NHS Foundation Trust Birmingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin H.","family":"Davies","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology University Hospitals Southampton NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J.","family":"Moon","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology University Hospitals Southampton NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Fairhurst","sequence":"additional","affiliation":[{"name":"Paediatric Radiology University Hospitals Southampton NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Bunyan","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Services Salisbury District Hospital United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"DDD Study","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Foulds","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service University Hospitals Southampton NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2010.08.001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.60"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30005"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01012.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01833.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01910.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4154.862"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"2519","DOI":"10.1002\/ajmg.a.36128","article-title":"Redefining the progeroid 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