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http://purl.uniprot.org/citations/24674092http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24674092http://www.w3.org/2000/01/rdf-schema#comment"

Background

The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V.

Methods

Sanger sequencing of the IFITM5 5' UTR was performed in our cohort of subjects with a clinical diagnosis of OI type V. Clinical data was collated from referring clinicians. RNA was extracted from a bone sample from one patient and Sanger sequenced to determine expression of wild-type and mutant IFITM5.

Results

All nine subjects with OI type V were heterozygous for the c.-14C > T IFITM5 mutation. Clinically, there was heterogeneity in phenotype, particularly in the manifestation of bone fragility amongst subjects. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone.

Conclusions

The c.-14C > T IFITM5 mutation does not result in an RNA-null allele but is expressed in bone. Individuals with identical mutations in IFITM5 have highly variable phenotypic expression, even within the same family."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.org/dc/terms/identifier"doi:10.1186/1471-2474-15-107"xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Brown M.A."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Duncan E.L."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"McInerney-Leo A.M."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Terhal P.A."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Thomas G."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Baynam G."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Sillence D."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Zankl A."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"McKenzie F.A."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Munns C.F."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Lazarus S."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Pryce K."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Cavan B.V."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Broley S."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/author"Pruijs J.E."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/name"BMC Musculoskelet Disord"xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/pages"107"xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/title"The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V."xsd:string
http://purl.uniprot.org/citations/24674092http://purl.uniprot.org/core/volume"15"xsd:string
http://purl.uniprot.org/citations/24674092http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24674092
http://purl.uniprot.org/citations/24674092http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/24674092
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