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A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V.

Cited 136 time in Web of Science Cited 145 time in Scopus
Authors
Cho, Tae-Joon; Lee, Kyung-Eun; Lee, Sook-Kyung; Song, Su Jeong; Kim, Kyung Jin; Jeon, Daehyun; Lee, Gene; Kim, Ha-Neui; Lee, Hye Ran; Eom, Hye-Hyun; Lee, Zang Hee; Kim, Ok-Hwa; Park, Woong-Yang; Park, Sung Sup; Ikegawa, Shiro; Yoo, Won Joon; Choi, In Ho; Kim, Jung-Wook
Issue Date
2012-08
Publisher
Elsevier
Citation
AMERICAN JOURNAL OF HUMAN GENETICS Vol.91 No.2, pp. 343-348
Keywords
의약학
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 50-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.
ISSN
0002-9297
Language
English
URI
http://hdl.handle.net/10371/82234
DOI
https://doi.org/10.1016/j.ajhg.2012.06.005
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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