Literature DB >> 33174625

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Ann-Charlotte Thuresson1, Brittany Croft2,3, Yasmin D Hailer4, Gunnar Liminga5, Carl-Göran Arvidsson6, Vincent R Harley2, Eva-Lena Stattin1.   

Abstract

Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.

Entities:  

Keywords:  FGF9; SYNS; fusion of interphalangeal joints; multiple synostosis syndrome

Year:  2021        PMID： 33174625      PMCID： PMC7839447          DOI： 10.1111/cge.13880

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Homodimerization controls the fibroblast growth factor 9 subfamily's receptor binding and heparan sulfate-dependent diffusion in the extracellular matrix.

Authors:  Juliya Kalinina; Sara A Byron; Helen P Makarenkova; Shaun K Olsen; Anna V Eliseenkova; William J Larochelle; Mohanraj Dhanabal; Steven Blais; David M Ornitz; Loren A Day; Thomas A Neubert; Pamela M Pollock; Moosa Mohammadi
Journal:  Mol Cell Biol       Date:  2009-06-29       Impact factor: 4.272

2.  FGF9 mutation causes craniosynostosis along with multiple synostoses.

Authors:  Maria Rodriguez-Zabala; Miriam Aza-Carmona; Carlos I Rivera-Pedroza; Alberta Belinchón; Isabel Guerrero-Zapata; Jimena Barraza-García; Elena Vallespin; Min Lu; Angela Del Pozo; Marc J Glucksman; Fernando Santos-Simarro; Karen E Heath
Journal:  Hum Mutat       Date:  2017-07-25       Impact factor: 4.878

3.  Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization.

Authors:  Yang Liu; Jinghong Ma; Andrew Beenken; Lakshmi Srinivasan; Anna V Eliseenkova; Moosa Mohammadi
Journal:  Structure       Date:  2017-07-27       Impact factor: 5.006

4.  Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes.

Authors:  Anthony D Bird; Brittany M Croft; Masayo Harada; Lingyun Tang; Liang Zhao; Zhenhua Ming; Stefan Bagheri-Fam; Peter Koopman; Zhugang Wang; Keiichi Akita; Vincent R Harley
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150

5.  A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.

Authors:  Lingyun Tang; Xiaolin Wu; Hongxin Zhang; Shunyuan Lu; Min Wu; Chunling Shen; Xuejiao Chen; Yicheng Wang; Weigang Wang; Yan Shen; Mingmin Gu; Xiaoyi Ding; Xiaolong Jin; Jian Fei; Zhugang Wang
Journal:  Hum Mol Genet       Date:  2017-04-01       Impact factor: 6.150

6.  Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition.

Authors:  A N Plotnikov; A V Eliseenkova; O A Ibrahimi; Z Shriver; R Sasisekharan; M A Lemmon; M Mohammadi
Journal:  J Biol Chem       Date:  2000-11-01       Impact factor: 5.157

7.  FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.

Authors:  Masayo Harada; Hirotaka Murakami; Akihiko Okawa; Noriaki Okimoto; Shuichi Hiraoka; Taka Nakahara; Ryogo Akasaka; Yo-Ichi Shiraishi; Noriyuki Futatsugi; Yoko Mizutani-Koseki; Atsushi Kuroiwa; Mikako Shirouzu; Shigeyuki Yokoyama; Makoto Taiji; Sachiko Iseki; David M Ornitz; Haruhiko Koseki
Journal:  Nat Genet       Date:  2009-02-15       Impact factor: 38.330

8.  Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

Authors:  Xiao-Lin Wu; Ming-Min Gu; Lei Huang; Xue-Song Liu; Hong-Xin Zhang; Xiao-Yi Ding; Jian-Qiang Xu; Bin Cui; Long Wang; Shun-Yuan Lu; Xiao-Yi Chen; Hai-Guo Zhang; Wei Huang; Wen-Tao Yuan; Jiang-Ming Yang; Qun Gu; Jian Fei; Zhu Chen; Zhi-Min Yuan; Zhu-Gang Wang
Journal:  Am J Hum Genet       Date:  2009-07       Impact factor: 11.025

9.  A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Authors:  Ann-Charlotte Thuresson; Brittany Croft; Yasmin D Hailer; Gunnar Liminga; Carl-Göran Arvidsson; Vincent R Harley; Eva-Lena Stattin
Journal:  Clin Genet       Date:  2021-02       Impact factor: 4.438
  9 in total
  1 in total

1.  A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Authors:  Ann-Charlotte Thuresson; Brittany Croft; Yasmin D Hailer; Gunnar Liminga; Carl-Göran Arvidsson; Vincent R Harley; Eva-Lena Stattin
Journal:  Clin Genet       Date:  2021-02       Impact factor: 4.438
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.