ICCBH2013 Poster Presentations (1) (201 abstracts)
Defects of SERPINF1 cause progressively deforming recessive osteogenesis imperfecta with normal collagen I
Giacomo Venturi 1 , Alberto Gandini 1 , Elena Monti 2 , Massimiliano Corradi 1 , Monica Vincenzi 1 , Claudia Piona 1 , Evelina Maines 1 , Grazia Morandi 1 , Orsiol Pepaj 1 & Franco Antoniazzi 1
1Department of Life and Reproduction Sciences and Pediatric Clinic, University of Verona, Verona, Italy; 2Complex of Operative Unit of Pediatric, A.U.L.S.S. 21 Legnago, Verona, Italy.
Background: Osteogenesis Imperfecta is commonly due to dominant mutations in type I collagen genes, COL1A1 and COL1A2. Recessive forms, which are rarer, are caused instead by mutations in various genes coding for proteins involved in collagen post-translational modifications, folding and secretion. A novel disease locus, SERPINF1, coding for pigment-epithelium-derived-factor (PEDF), a likely key factor in bone deposition and remodelling, has been found recently.
Methods: We have investigated a group of patients with unresolved genetic diagnoses by means of genomic DNA sequencing and, when possible, by means of further histomorphometric characterization.
Results: In two of them we found homozygous mutations leading to either nonsense-mediated decay or truncated mutant mRNA. A third subject harbours two different mutations: compound heterozygosity results in a diminished mutant mRNA expression. Another patient, finally, is homozygous for a missense mutation which causes an E→K substitution in a highly conserved domain at the C-term region of the protein.
All patients exhibit a common peculiar phenotype characterized by a progressive worsening of the clinical symptoms, greyish sclerae, normal dentition, severe deformity of the long bones without Rhizomelia.
Synthesis and secretion of mutant PEDF are differently affected, accordingly to the type of mutation, but in all cases type I collagen seems to be quantitatively and qualitatively normal.
Clinical, radiographic, histological and histomorphometric findings in these probands are reminiscent of type VI OI, previously described by Glorieux et al. (2002).
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Bone Abstracts
ISSN 2052-1219 (online)
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