Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta. Issue 2 (February 2015)

• Record Type: Journal Article
• Authors: Cho, Sung Yoon; Asharani, P.V.; Kim, Ok‐Hwa; Iida, Aritoshi; Miyake, Noriko; Matsumoto, Naomichi; Nishimura, Gen; Ki, Chang‐Seok; Hong, Geehay; Kim, Su Jin; Sohn, Young Bae; Park, Sung Won; Lee, Jieun; Kwun, Younghee; Carney, Thomas J.; Huh, Rimm; Ikegawa, Shiro; Jin, Dong‐Kyu
• Is Part Of: Human mutation. Volume 36:Issue 2(2015:Feb.)
• Page Start: 191
• Page End: 195
• Publication Date: 2015-02
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22731
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22731-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Skeletal survey and novel <italic>BMP1</italic> variants (c.808A&gt;G, c.1297G&gt;T) in a Korean patient with OI who had an umbilical hernia, frequent fractures, a markedly short stature, delayed motor development, scoliosis, and dislocation of the radial head, with a bowed radius and ulna. The former variant caused a missense change p.(Met270Val) and the latter variant caused the skipping of exon 10. The hypofunctional nature of the two variants was demonstrated in a zebrafish assay. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh3r5jm64x" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>