Supplementary Material for: Novel Deletion of <b><i>SERPINF1</i></b> Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families
2014-11-25T00:00:00Z (GMT) by
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.