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ba0001pp500 | Other diseases of bone and mineral metabolism | ECTS2013

IFITM5 c.−14C>T mutation causes variable type V osteogenesis imperfecta phenotype and decreased COL1A1 expression but increased mineralization by cultured proband osteoblasts

Reich Adi , Bae Alison S , Barnes Aileen M , Cabral Wayne A , Chitayat David , Marini Joan C

Introduction: Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder characterized by bone fragility. OI type V, with autosomal dominant inheritance, is characterized by ossification of the forearm interosseus membrane, radiodense metaphyseal bands, propensity for hyperplastic callus formation, and mesh-like lamellation on bone histology. Type V OI probands are reported to have white sclerae and normal teeth. Recent reports identified the cause of type V OI as a ...

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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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Bone Abstracts

IFITM5 c.−14C>T mutation causes variable type V osteogenesis imperfecta phenotype and decreased COL1A1 expression but increased mineralization by cultured proband osteoblasts

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

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