{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:11:30Z","timestamp":1792098690249,"version":"4.4.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T00:00:00Z","timestamp":1112572800000},"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":[[2005,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Keutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (<jats:italic>MGP<\/jats:italic>) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcification inhibitor by repressing bone morphogenetic protein 2 (BMP2). Loss\u2010of\u2010function mutations of <jats:italic>MGP<\/jats:italic> result in abnormal calcification of the soft tissues, a cardinal feature of KS. We report the fourth <jats:italic>MGP<\/jats:italic> mutation (IVS2\u2009+\u20091G\u2009&gt;\u2009A) in a consanguineous Arab family, which results in the loss of the consensus donor splice site at the exon 2\u2013intron 2 junction. In addition to the typical manifestations, we observed abnormalities in the white matter of the brain, optic nerve atrophy, and mid\u2010dermal elastolysis in the affected individuals of this family. This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2\u2009+\u20091G\u2009&gt;\u2009A mutation is consistent with the previously reported loss\u2010of\u2010function mutations of <jats:italic>MGP<\/jats:italic>. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30680","type":"journal-article","created":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T20:47:32Z","timestamp":1112647652000},"page":"36-40","source":"Crossref","is-referenced-by-count":80,"title":["A novel <i>MGP<\/i> mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome"],"prefix":"10.1002","volume":"135A","author":[{"given":"David J.","family":"Hur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald V.","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen 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