Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients

Frank Rauch; Pierre Moffatt; Moira Cheung; Peter Roughley; Liljana Lalic; Allan M Lund; Norman Ramirez; Somayyeh Fahiminiya; Jacek Majewski; Francis H Glorieux

doi:10.1136/jmedgenet-2012-101307

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients

Frank Rauch
, Pierre Moffatt
, Moira Cheung
, Peter Roughley
, Liljana Lalic
, Allan M Lund
, Norman Ramirez
, Somayyeh Fahiminiya
, Jacek Majewski
, Francis H Glorieux

Afdeling for Genetik

112 Citationer (Scopus)

Abstract

Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation.

Originalsprog	Engelsk
Tidsskrift	Journal of Medical Genetics
Vol/bind	50
Udgave nummer	1
Sider (fra-til)	21-4
Antal sider	4
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmedgenet-2012-101307
Status	Udgivet - jan. 2013

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10.1136/jmedgenet-2012-101307

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title = "Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients",

abstract = "Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation.",

keywords = "Adolescent, Adult, Aged, Bone and Bones, Child, Child, Preschool, Female, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Osteogenesis Imperfecta, Phenotype, Young Adult",

author = "Frank Rauch and Pierre Moffatt and Moira Cheung and Peter Roughley and Liljana Lalic and Lund, \{Allan M\} and Norman Ramirez and Somayyeh Fahiminiya and Jacek Majewski and Glorieux, \{Francis H\}",

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doi = "10.1136/jmedgenet-2012-101307",

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T1 - Osteogenesis imperfecta type V

T2 - marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients

AU - Rauch, Frank

AU - Moffatt, Pierre

AU - Cheung, Moira

AU - Roughley, Peter

AU - Lalic, Liljana

AU - Lund, Allan M

AU - Ramirez, Norman

AU - Fahiminiya, Somayyeh

AU - Majewski, Jacek

AU - Glorieux, Francis H

PY - 2013/1

Y1 - 2013/1

N2 - Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation.

AB - Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation.

KW - Adolescent

KW - Adult

KW - Aged

KW - Bone and Bones

KW - Child

KW - Child, Preschool

KW - Female

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Middle Aged

KW - Mutation

KW - Osteogenesis Imperfecta

KW - Phenotype

KW - Young Adult

U2 - 10.1136/jmedgenet-2012-101307

DO - 10.1136/jmedgenet-2012-101307

M3 - Journal article

C2 - 23240094

SN - 0022-2593

VL - 50

SP - 21

EP - 24

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 1

ER -

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients

Abstract

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