{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:04:50Z","timestamp":1789524290386,"version":"build-2803163510"},"reference-count":16,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Background:<\/jats:title>\n \n Weill\u2013Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart defects, and eye abnormalities. This disorder is inherited in two different modes; the autosomal dominant form of the disease occurs due to a mutation in\n FBN1<\/jats:italic>\n , and the recessive form results from mutations in\n ADAMTS10<\/jats:italic>\n ,\n ADAMTS17<\/jats:italic>\n , or\n LTP2<\/jats:italic>\n genes.\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods:<\/jats:title>\n The family recruited in this study was a consanguineous Iranian family with an intellectually disabled girl referred to the Sadra Genetics laboratory, Shahrekord, Iran. The clinical history of family members was investigated. Whole-Exome Sequencing (WES) for the proband was performed. Sanger sequencing was used to assess the segregation of candidate variants in the other family members.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Whole-exome sequencing analysis revealed a novel heterozygote mutation in the proband located at the third TGF-\u03b2-binding protein-like (TB) domain of the\n FBN1 g<\/jats:italic>\n ene (NM000138: c.2066A>G: (p. Glu689Gly), NP_000129.3, in exon 17 of the gene). Co-segregation analysis with Sanger sequencing confirmed this mutation in the affected members of the pedigree.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n Our findings represent an autosomal dominant form of specific WMS resulting from a substitution mutation in the\n FBN1 g<\/jats:italic>\n ene. In addition to the typical manifestations of the disorder, mild intellectual disability (ID) was identified in the 8-year-old proband. Given the fact that ID is primarily reported in\n ADAMTS10<\/jats:italic>\n mutated cases, this family was clinically and genetically a novel case.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/abr.abr_138_22","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T08:05:01Z","timestamp":1682669101000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Missense Mutation in the TGF-\u03b2-binding Protein-Like Domain 3 of FBN1 Causes Weill\u2013Marchesani Syndrome with Intellectual Disability"],"prefix":"10.4103","volume":"12","author":[{"given":"Mahdieh","family":"Hassani","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Taghizadeh","sequence":"additional","affiliation":[{"name":"Translational Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anahita","family":"Farahzad Broujeni","sequence":"additional","affiliation":[{"name":"Shahrekord Neuroscience Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahvash","family":"Habibi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Setareh","family":"Banitalebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahbubeh","family":"Kasiri","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical Genetics Laboratory, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alireza","family":"Sadeghi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahoura","family":"Nozari","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran"},{"name":"Department of Medical Genetics, Medical Genetics Laboratory, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,4]]},"reference":[{"key":"R1-20240830","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/ajmg.a.20289","article-title":"Clinical homogeneity and genetic heterogeneity in Weill\u2013Marchesani 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