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ba0003pp187 | Genetics | ECTS2014

A novel mutation in IFITM5, encoding BRIL, impairs osteoblast production of PEDF and causes atypical type VI osteogenesis imperfecta

Reich Adi , Farber Charles R , Barnes Aileen M , Becerra Patricia , Rauch Frank , Cabral Wayne A , Bae Alison , Glorieux Francis H , Clemens Thomas L , Marini Joan C

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

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A novel mutation in IFITM5, encoding BRIL, impairs osteoblast production of PEDF and causes atypical type VI osteogenesis imperfecta

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