A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

作者：Venturi Giacomo; Monti Elena^*; Carbonare Luca Dalle; Corradi Massimiliano; Gandini Alberto; Valenti Maria Teresa; Boner Attilio; Antoniazzi Franco

来源：Bone, 2012, 50(1): 343-349.

DOI：10.1016/j.bone.2011.10.023

• Bone
• Fractures
• Biphosphonate
• Collagen
• FKBP10
• COL1A1

Osteogenesis imperfecta (01) is a group of hereditary disorders characterized by bone fragility and osteopenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and clue to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding (prolyl-3-hydroxylase complex, SERPINH1, FKBP10). %26lt;br%26gt;We report the case of a patient with an initially mild and then progressively severe form of osteogenesis imperfecta due to a novel homozygous splicing mutation in FKBP10 (intron 8 c.1399 + 1G%26gt;A), which results in aberrant mRNA processing and consequent lack of FKBP65 chaperone. %26lt;br%26gt;Although this mutation does not affect collagen type 1 post translational modifications in dermal fibroblasts, the histomorphometric pattern of our patient%26apos;s bone sample showed a mineralization defect possibly due to the mutation in FKBP10.

• 出版日期2012-1