A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V Tae-Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, Su Jeong Song,

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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V Tae-Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, Su Jeong Song, Kyung Jin Kim, Daehyun Jeon, Gene Lee, Ha-Neui Kim, Hye Ran Lee, Hye-Hyun Eom, Zang Hee Lee, Ok-Hwa Kim, Woong-Yang Park, Sung Sup Park, Shiro Ikegawa, Won Joon Yoo, In Ho Choi, Jung- Wook Kim The American Journal of Human Genetics Volume 91, Issue 2, Pages 343-348 (August 2012) DOI: 10.1016/j.ajhg.2012.06.005 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Radiologic Findings for OI Type V (A) The forearm of individual II:1 from family 9 at 15 years of age shows calcification of the interosseous membrane without radial-head dislocation. (B) The forearm of individual II:2 from family 3 at 27 years of age shows calcification of the interosseous membrane with radial-head dislocation. (C) The left femur i of individual II:1 from family 4 at 7 years of age. Note hyperplastic callus after open reduction of the femur shaft fracture. (D) Scoliosis and vertebral body collapse in individual IV:6 from family 1 at 11 years of age. The American Journal of Human Genetics 2012 91, 343-348DOI: (10.1016/j.ajhg.2012.06.005) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Mutation of IFITM5 in OI Type V Schematic representation of IFITM5 is shown under the linked region (11pter-11p15.4). Dark green boxes indicate coding exons, and bright green boxes indicate UTRs. The mutation (c.−14C>T) is indicated by the red arrow, and the additional five amino acids generated by this mutation are shown under the gene sequence. The sequencing chromatogram of an affected individual is shown below. The American Journal of Human Genetics 2012 91, 343-348DOI: (10.1016/j.ajhg.2012.06.005) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 In Vitro Translation Assay Total cell lysates of HEK293 cells transfected with three mutated cDNAs (c.2T>C, c.−14C>T, and both), wild-type, or wild-type along with c.−14C>T cDNA were immunoblotted with GFP antibody. When the original start codon was mutated (c.2T>C), no translation was observed. Translation started at the start codon generated by the mutation (c. −14C>T) regardless of the status of the original start codon. Its translaton product was slightly larger than that of the wild-type. Cotransfection with wild-type and c.−14C>T-mutated constructs produced double bands. GAPDH was used as an internal control. The American Journal of Human Genetics 2012 91, 343-348DOI: (10.1016/j.ajhg.2012.06.005) Copyright © 2012 The American Society of Human Genetics Terms and Conditions