Journal
JOURNAL OF BONE AND MINERAL RESEARCH
Volume 26, Issue 12, Pages 2798-2803Publisher
WILEY
DOI: 10.1002/jbmr.487
Keywords
BRITTLE BONE DISEASE; COLLAGEN TYPE I; FRACTURE; MATRIX PROTEINS; PIGMENT EPITHELIUM-DERIVED FACTOR
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Funding
- NIH [DE01771, HD22657, F31 DE020954, DE01956]
- Shriners of North America
- Baylor College of Medicine IDDRC [HD024064]
- Rolannette and Berdon Lawrence Bone Disease Program of Texas
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Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type 1 procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficking of type I procollagen. Recessive OI type VI is unique among 01 types in that it is characterized by an increased amount of unmineralized osteoid, thereby suggesting a distinct disease mechanism. In a large consanguineous family with OI type VI, we performed homozygosity mapping and next-generation sequencing of the candidate gene region to isolate and identify the causative gene. We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium-derived factor. Hence, loss of pigment epithelium-derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization. (C) 2011 American Society for Bone and Mineral Research.
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