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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.

Lazarus, Syndia; McInerney-Leo, Aideen M; McKenzie, Fiona A; Baynam, Gareth; Broley, Stephanie; Cavan, Barbra V; Munns, Craig F; Pruijs, Johannes Egbertus Hans; Sillence, David; Terhal, Paulien A; Pryce, Karena; Brown, Matthew A; Zankl, Andreas; Thomas, Gethin; Duncan, Emma L.
BMC Musculoskelet Disord; 15: 107, 2014 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-24674092

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.
Selo DaSilva