Supplementary Material for: Novel Deletion of <b><i>SERPINF1</i></b> Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families Moldenhauer Minillo R. Sobreira N. de Fatima de Faria Soares M. Jurgens J. Ling H. Hetrick K.N. Doheny K.F. Valle D. Brunoni D. Alvarez Perez A.B. 10.6084/m9.figshare.5127295.v1 https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Novel_Deletion_of_b_i_SERPINF1_i_b_Causes_Autosomal_Recessive_Osteogenesis_Imperfecta_Type_VI_in_Two_Brazilian_Families/5127295 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. 2014-11-25 00:00:00 Autosomal recessive Osteogenesis imperfecta type VI SERPINF1