{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T02:18:26Z","timestamp":1790734706353,"version":"4.1.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T00:00:00Z","timestamp":1671580800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province of China","doi-asserted-by":"publisher","award":["2020JJ4409"],"award-info":[{"award-number":["2020JJ4409"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Ehlers-Danlos syndrome (EDS) spinal deformity type 2 has clinical features similar to those of spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1). They have similar clinical manifestations and a similar genetic basis, both of which can be caused by mutations in the <jats:italic>B3GALT6<\/jats:italic> gene. Hence, genetic screening and careful clinical examination are key to the differential diagnosis of these two diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 4-month-old boy was admitted to our hospital in order to find the causes of developmental delay. The clinical examination revealed that the child was delayed, with an excessive range of motion of joints, patent foramen ovale, and was accompanied by skin aging; the child was suspected to have EDS. However, unlike EDS, the child had normal muscle tension, and at the same time had a spinal deformity, mild kyphosis, widened right hip joint space, as well as a special face, joint laxity, and slender fingers, which were typical characteristics of SEMDJL1. A gene analysis showed two suspicious mutations in the <jats:italic>B3GALT6<\/jats:italic> gene: c.808G\u2009&amp;gt;\u2009A(p.(G270S)) and c.942G\u2009&amp;gt;\u2009C(p.(W314C)), which were verified to be compound heterozygous mutations by analyzing genes in his parents. This mutation was not included in the HGMD, ClinVar, and other mutation databases, and thus was a newly discovered mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Using the clinical and genetic analyses, this study reported a Chinese case with EDS-like SEMDJL1 for the first time. Two pathogenic mutations were discovered in the <jats:italic>B3GALT6<\/jats:italic> gene: c.808G\u2009&amp;gt;\u2009A(p.(G270S)) and c.942G\u2009&amp;gt;\u2009C(p.(W314C)).<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.1073748","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T07:36:46Z","timestamp":1671608206000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report"],"prefix":"10.3389","volume":"10","author":[{"given":"Shu","family":"Han","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianzhou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,12,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers\u2013Danlos syndromes","author":"Malfait","year":"2017","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/BF00580591","article-title":"Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis","volume":"5","author":"Beighton","year":"1980","journal-title":"Skeletal Radiol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3%3C245::AID-AJMG10%3E3.0.CO;2-5","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States","volume":"86","author":"Smith","year":"1999","journal-title":"Am J Med Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1016\/j.ajhg.2013.04.016","article-title":"Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos syndrome-like connective tissue disorder","volume":"92","author":"Malfait","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1016\/j.ajhg.2013.04.003","article-title":"Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders","volume":"92","author":"Nakajima","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgmr.2014.11.005","article-title":"Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations","volume":"2","author":"Ritelli","year":"2014","journal-title":"Mol Genet Metab Rep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"B8","year":""},{"key":"B9","year":""},{"key":"B10","year":""},{"key":"B11","year":""},{"key":"B12","year":""},{"key":"B13","year":""},{"key":"B14","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1111\/j.1399-0004.1984.tb01065.x","article-title":"The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity","volume":"26","author":"Beighton","year":"1984","journal-title":"Clin Genet"},{"key":"B15","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1002\/ajmg.a.10927","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients","author":"Nishimura","year":"2003","journal-title":"Am J Med Genet A"},{"key":"B16","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1111\/cge.12413","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity (beighton type); mutation analysis in eight affected South African families","volume":"87","author":"Vorster","year":"2015","journal-title":"Clin Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1097\/BPB.0b013e328311d357","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with Normal face and literature review","volume":"17","author":"Sulko","year":"2008","journal-title":"J Pediatr Orthop B"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1399-0004.2012.01858.x","article-title":"The Ehlers\u2013Danlos syndrome, a disorder with many faces","volume":"82","author":"De Paepe","year":"2012","journal-title":"Clin Genet"},{"key":"B19","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ajhg.2011.12.004","article-title":"Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss","volume":"90","author":"Baumann","year":"2011","journal-title":"Am J Hum Genet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1093\/glycob\/cwx099","article-title":"Vascular abnormalities in the placenta of Chst14\u2212\/\u2212 fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14\/D4ST1 deficiency","volume":"28","author":"Yoshizawa","year":"2018","journal-title":"Glycobiology"},{"key":"B21","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1016\/j.clinbiochem.2017.02.018","article-title":"Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14\/D4ST1 deficiency","volume":"50","author":"Mizumoto","year":"2017","journal-title":"Clin Biochem"},{"key":"B22","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1111\/ped.12878","article-title":"CHST14\/D4ST1 Deficiency: new form of Ehlers\u2013Danlos syndrome","volume":"58","author":"Kosho","year":"2016","journal-title":"Pediatr Int"},{"key":"B23","doi-asserted-by":"publisher","first-page":"1344","DOI":"10.1002\/ajmg.a.35339","article-title":"Extracellular matrix and platelet function in patients with musculocontractural Ehlers\u2013Danlos syndrome caused by mutations in the CHST14 gene","author":"Mendoza-Londono","year":"2012","journal-title":"Am J Med Genet A"},{"key":"B24","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1016\/j.matbio.2018.04.013","article-title":"Vascular aspects of the Ehlers-Danlos syndromes","author":"Malfait","year":"2018","journal-title":"Matrix Biol"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.1073748\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T07:36:49Z","timestamp":1671608209000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.1073748\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,21]]},"references-count":24,"alternative-id":["10.3389\/fped.2022.1073748"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.1073748","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,21]]},"article-number":"1073748"}}