Abstract Search

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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ba0007oc22 | (1) | ICCBH2019

Bone tissue phenotyping reveals increased matrix mineralization, elevated osteocyte lacunar density and altered vascularity in a new OI mouse model carrying a leucine substitution for the BRIL p.Serine42 residue

Hedjazi Ghazal , Guterman-Ram Gali , Blouin Stephane , Roschger Paul , Klaushofer Klaus , Fratzl-Zelman Nadja , Marini Joan C

Objectives: A common feature of nearly all forms of osteogenesis imperfecta (OI) is a hypermineralized bone matrix. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, lead to type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyte development and increased matrix mineralization. Recently, atypical type VI OI has been delineated, caused by a loss-of-function mutation (p.S40L) in IFITM5 the causative gene for type V OI. The 6 cases rep...

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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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ba0004oc10 | (1) | ICCBH2015

Lack of PEDF within the bone matrix is associated with osteoidosis and abnormally high bone mineral content

Fratzl-Zelman Nadja , Schmidt Ingo , Roschger Paul , Roschger Andreas , Reich Adi , Glorieux Francis H. , Wagermaier Wolfgang , Fratzl Peter , Klaushofer Klaus , Marini Joan C. , Rauch Frank

Background and methods: Pigment epithelium-derived factor (PEDF) is a potent antiangiogenic factor, ubiquitously expressed and secreted in human tissues. Hypertrophic cartilage and osteoblasts express PEDF that binds to type I collagen and glycosaminoglycans in the extracellular matrix. Two rare forms of osteogenesis imperfecta (OI) with intact collagen synthesis are associated with PEDF deficiency. Histological observations revealed excessive osteoid formation and prolonged m...

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ba0005oc6.2 | Development and differentiation (or Aging) | ECTS2016

Bone with uncleavable type I collagen C-propeptide has abnormal development of multiple bone cell populations and increased bone mineral density with age

Barnes Aileen M , Perosky Joseph E , Blouin Stephane , Rajpar M Helen , Khoury Basma , Klaushofer Klaus , Roschger Paul , Fratzl-Zelman Nadja , Kozloff Kenneth M , Marini Joan C

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

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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

Bone tissue phenotyping reveals increased matrix mineralization, elevated osteocyte lacunar density and altered vascularity in a new OI mouse model carrying a leucine substitution for the BRIL p.Serine42 residue

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

Lack of PEDF within the bone matrix is associated with osteoidosis and abnormally high bone mineral content

Bone with uncleavable type I collagen C-propeptide has abnormal development of multiple bone cell populations and increased bone mineral density with age

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