{"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":1790734706414,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T00:00:00Z","timestamp":1521072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"College of Medicine and Health Sciences, United Arab Emirates University, UAE","award":["31M241"],"award-info":[{"award-number":["31M241"]}]},{"name":"College of Medicine and Health Sciences, United Arab Emirates University, UAE","award":["131R126"],"award-info":[{"award-number":["131R126"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Al\u2010Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al\u2010Gazali syndrome was found to have compound heterozygous variants in <jats:italic>B3GALT6<\/jats:italic>. This gene encodes Beta\u20101,3\u2010galactosyltransferase 6 (\u03b23GalT6), an essential component of the glycosaminoglycan synthesis pathway. Pathogenic variants in <jats:italic>B3GALT6<\/jats:italic> have also been shown to cause Ehlers\u2010Danlos syndrome spondylodysplastic type (spEDS\u2010B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD\u2010JL1). In 2017, a new international classification of EDS included these 2 conditions together with the child reported to have features similar to Al\u2010Gazali syndrome under spondylodysplastic EDS (spEDS). We report a disease\u2010causing variant c.618C &gt; G, p.(Cys206Trp) in 1 patient originally described as Al\u2010Gazali syndrome and reported in 1999. We evaluated the involvement of the endoplasmic reticulum\u2010associated protein degradation, in the pathogenesis of 13 <jats:italic>B3GALT6<\/jats:italic> variants. Retention in endoplasmic reticulum was evident in 6 of them while the c.618C &gt; G, p.(Cys206Trp) and the other 6 variants trafficked normally. Our findings confirm the involvement of <jats:italic>B3GALT6<\/jats:italic> in the pathogenesis of Al\u2010Gazali syndrome and suggest that Al\u2010Gazali syndrome represents the severe end of the spectrum of the phenotypes caused by pathogenic variants in this gene.<\/jats:p>","DOI":"10.1111\/cge.13236","type":"journal-article","created":{"date-parts":[[2018,2,14]],"date-time":"2018-02-14T15:53:59Z","timestamp":1518623639000},"page":"1148-1158","source":"Crossref","is-referenced-by-count":22,"title":["A <i>B3GALT6<\/i> variant in patient originally described as Al\u2010Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some \u03b23GalT6\u2010pathy mutations"],"prefix":"10.1111","volume":"93","author":[{"given":"A.","family":"Ben\u2010Mahmoud","sequence":"first","affiliation":[{"name":"Department of Pathology, College of Medicine and Heath Sciences United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ben\u2010Salem","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine and Heath Sciences United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Al\u2010Sorkhy","sequence":"additional","affiliation":[{"name":"College of pharmacy Al Ain University of Science and Technology  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"John","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine and Heath Sciences United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.R.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine and Heath Sciences United Arab Emirates University  Al Ain United Arab Emirates"},{"name":"Zayed Center for Health Sciences, United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2029-2218","authenticated-orcid":false,"given":"L.","family":"Al\u2010Gazali","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, College of Medicine and Heath Sciences United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,15]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"238","article-title":"Anterior segment anomalies of the eye, clefting and skeletal abnormalities in 2 sibs of consanguineous parents: Michels syndrome or new syndrome?","volume":"3","author":"Al\u2010Gazali L","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_6_3_1","first-page":"87","article-title":"Anterior segment anomalies of the 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