{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:22:10Z","timestamp":1773922930638,"version":"3.50.1"},"reference-count":31,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2014]]},"abstract":"Autosomal recessive<b> <\/b>osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes <i>(CRTAP<\/i>, <i>LEPRE1<\/i>, <i>PPIB<\/i>, <i>SERPINH1<\/i>, <i>FKBP10<\/i>, <i>SERPINF1, SP7<\/i>, <i>BMP1, TMEM38B, <\/i>and<i> WNT1)<\/i> are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by <i>SERPINF1<\/i>, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous <i>SERPINF1<\/i> 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous <i>SERPINF1<\/i> 19-bp deletion and suggest a founder effect. Furthermore, the <i>SERPINF1<\/i> genotypes\/phenotypes reported so far in the literature are reviewed.<\/jats:p>","DOI":"10.1159\/000369108","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T07:27:07Z","timestamp":1416900427000},"page":"268-275","source":"Crossref","is-referenced-by-count":21,"title":["Novel Deletion of <b><i>SERPINF1<\/i><\/b> Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families"],"prefix":"10.1159","volume":"5","author":[{"given":"Renata","family":"Moldenhauer Minillo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nara","family":"Sobreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"de Fatima de Faria 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