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A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. | LitMetric

AI Article Synopsis

  • * Researchers identified a mutation in the gene for interferon-induced transmembrane protein 5 (IFITM5) using family studies and genetic sequencing, which consistently linked the mutation to OI type V cases.
  • * This mutation changes the protein structure of IFITM5, which is important for bone formation, suggesting that it affects IFITM5's function and leads to the symptoms of OI type V.

Article Abstract

Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causative mutation involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation of c.-14C>T in the 5'-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals. Transfection of wild-type and mutant IFITM5 constructs revealed that the mutation added five amino acids (Met-Ala-Leu-Glu-Pro) to the N terminus of IFITM5. Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415533PMC
http://dx.doi.org/10.1016/j.ajhg.2012.06.005DOI Listing

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