{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T07:34:36Z","timestamp":1790494476263,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Keutel syndrome is a rare, autosomal recessive disorder characterized by diffuse cartilage calcification, peripheral pulmonary artery stenosis, midface retrusion, and short distal phalanges. To date, 28 patients from 18 families have been reported, and five mutations in the matrix Gla protein gene (<jats:italic>MGP<\/jats:italic>) have been identified. The matrix Gla protein (MGP) is a vitamin K\u2010dependent extracellular protein that functions as a calcification inhibitor through incompletely understood mechanisms. We present the clinical manifestations of three affected siblings from a consanguineous Turkish family, in whom we detected the sixth <jats:italic>MGP<\/jats:italic> mutation (c.79G&gt;T, which predicts p.E27X) and a fourth unrelated patient in whom we detected the seventh <jats:italic>MGP<\/jats:italic> mutation, a partial deletion of exon 4. Both mutations predict complete loss of MGP function. One of the patients presented initially with a working diagnosis of relapsing polychondritis. Clinical features suggestive of Keutel syndrome were also observed in one additional unrelated patient who was later found to have a deletion of arylsulfatase E, consistent with a diagnosis of X\u2010linked recessive chondrodysplasia punctata. Through a discussion of these cases, we highlight the clinical overlap of Keutel syndrome, X\u2010linked chondrodysplasia punctata, and the inflammatory disease relapsing polychondritis. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36390","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:39:54Z","timestamp":1390520394000},"page":"1062-1068","source":"Crossref","is-referenced-by-count":19,"title":["Keutel syndrome: Report of two novel <i>MGP<\/i> mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis"],"prefix":"10.1002","volume":"164","author":[{"given":"K. 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