{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T03:21:12Z","timestamp":1773804072829,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,1,16]],"date-time":"2003-01-16T00:00:00Z","timestamp":1042675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Telethon Foundation"},{"name":"March of Dimes Birth Defects Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Opitz (or G\/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X\u2010linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, <jats:italic>MID1<\/jats:italic>, encodes a protein containing a RING\u2010Bbox\u2010Coiled\u2010coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the <jats:italic>MID1<\/jats:italic> gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X\u2010linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3\u2032 region. By reviewing all the <jats:italic>MID1<\/jats:italic>\u2010mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo\u2010tracheo\u2010esophageal (LTE) defects are also common anomalies, being manifested by all <jats:italic>MID1<\/jats:italic>\u2010mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a <jats:italic>MID1<\/jats:italic>\u2010mutated patient showing syndactyly. The low frequency of mutations in <jats:italic>MID1<\/jats:italic> and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10265","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"222-228","source":"Crossref","is-referenced-by-count":85,"title":["X\u2010linked Opitz syndrome: Novel mutations in the <i>MID1<\/i> gene and redefinition of the clinical spectrum"],"prefix":"10.1002","volume":"120A","author":[{"given":"Francesca","family":"De 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