{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T08:07:43Z","timestamp":1777104463945,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T00:00:00Z","timestamp":1331251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>MID1<\/jats:italic> gene result in X\u2010linked Opitz G\/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip\/palate, hypospadias, and laryngo\u2010tracheo\u2010esophageal abnormalities, and, at times, neurological, anal, and cardiac defects. <jats:italic>MID1<\/jats:italic> gene abnormalities include missense, nonsense, and splicing mutations, small insertions, small deletions, and complex rearrangements. Here, we present a patient with Opitz G\/BBB syndrome and a unique <jats:italic>MID1<\/jats:italic> gene point mutation c.1703T&lt;C (p. Ile568Thr) in exon 10. This mutation was located in the loop between \u03b25 and \u03b26 beta pleated sheets in the SPRY domain. According to our 3D models based on the PRY\u2010SPRY domain of the human TRIM72, the I568T mutation altered the conformation in the loops between \u03b25 and \u03b26 and between \u03b27 and \u03b28. Thus, the I568T mutation altered the conformation of surface B of the binding pocket and may affect the binding affinity to the PRY domain. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35216","type":"journal-article","created":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T21:25:34Z","timestamp":1331328334000},"page":"726-731","source":"Crossref","is-referenced-by-count":14,"title":["A <i>MID1<\/i> gene mutation in a patient with Opitz G\/BBB syndrome that altered the 3D structure of SPRY 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