Journal of the Neurological Sciences
Volume 296, Issue 1 , Pages 22-29 , 15 September 2010

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations

  • Dong-Hui Chen

      Affiliations

    • Department of Neurology, University of Washington, Seattle, WA, USA
    • ,
  • Wendy H. Raskind

      Affiliations

    • Department of Medicine, University of Washington, Seattle, WA, USA
    • Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
    • Mental Illness Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
    • ,
  • William W. Parson

      Affiliations

    • Department of Biochemistry, University of Washington, Seattle, WA, USA
    • ,
  • Joshua A. Sonnen

      Affiliations

    • Department of Pathology, University of Washington, Seattle, WA, USA
    • ,
  • Tiffany Vu

      Affiliations

    • Department of Medicine, University of Washington, Seattle, WA, USA
    • ,
  • YunLin Zheng

      Affiliations

    • Department of Medicine, University of Washington, Seattle, WA, USA
    • ,
  • Mark Matsushita

      Affiliations

    • Department of Medicine, University of Washington, Seattle, WA, USA
    • ,
  • John Wolff

      Affiliations

    • Department of Medicine, University of Washington, Seattle, WA, USA
    • Geriatrics Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
    • ,
  • Hillary Lipe

      Affiliations

    • Department of Neurology, University of Washington, Seattle, WA, USA
    • Geriatrics Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
    • ,
  • Thomas D. Bird

      Affiliations

    • Department of Neurology, University of Washington, Seattle, WA, USA
    • Department of Medicine, University of Washington, Seattle, WA, USA
    • Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
    • Geriatrics Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
    • Corresponding Author InformationCorresponding author. VA Puget Sound Health Care System, 1660 S Columbian Way, S-182-GRECC, Seattle, WA 98108, United States. Tel.: +1 206 277 1453; fax: +1 206 764 2569.

Received 28 January 2010 ,Revised 14 June 2010 ,Accepted 16 June 2010.

References 

  1. Schessl J, Zou Y, McGrath MJ, et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 2008;118:904–912
  2. Quinzii CM, Vu TH, Min KC, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008;82:208–213
  3. Windpassinger C, Schoser B, Straub V, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008;82:88–99
  4. Shalaby S, Hayashi YK, Goto K, et al. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord. 2008;18:959–961
  5. Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I. Novel FHL1 mutations in fatal and benign reducing body myopathy. Neurology. 2009;72:375–376
  6. Schessl J, Taratuto AL, Sewry C, et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009;132:452–464
  7. Gueneau L, Bertrand AT, Jais J-P, et al. Mutations of the FHL1 gene cause Emery–Dreifuss muscular dystrophy. Am J Hum Genet. 2009;85:338–353
  8. Schoser B, Goebel HH, Janisch I, et al. Consequences of mutations within the C terminus of the FHL1 gene. Neurology. 2009;73:543–551
  9. McGrath MJ, Cottle DL, Nguyen MA, et al. Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly. J Biol Chem. 2006;281:7666–7683
  10. Loughna PT, Mason P, Bayol S, Brownson C. The LIM-domain protein FHL1 (SLIM 1) exhibits functional regulation in skeletal muscle. Mol Cell Biol Res Commun. 2000;3:136–140
  11. Taniguchi Y, Furukawa T, Tun T, Han H, Honjo T. LIM protein KyoT2 negatively regulates transcription by association with the RBP-J DNA-binding protein. Mol Cell Biol. 1998;18:644–654
  12. Chen DH, Matsushita M, Rainier S, et al. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005;62:597–600
  13. Qin XR, Nagashima T, Hayashi F, Yokoyama S. Database on the Internet. 2005;Available from: http://www.pdb.org/pdb/explore.do?structureId=1X63
  14. Alden RG, Parson WW, Chu ZT, Warshel A. Orientation of the OH dipole of tyrosine (M)210 and its effect on electrostatic energies in photosynthetic reaction centers. J Phys Chem. 1996;100:16761–16770
  15. Lee FS, Chu ZT, Warshel A. Microscopic and semimicroscopic calculations of electrostatic energies in proteins by the POLARIS and ENZYMIX programs. J Comp Chem. 1993;14:161–185
  16. Parson WW, Warshel A. Calculations of electrostatic energies in proteins using microscopic, semimicroscopic and macroscopic models and free-energy perturbation approaches. In:  Aartsma TJ,  Matysik J editor. Biophysical techniques in photosynthesis. Dordrecht: Springer; 2008;p. 401–420
  17. Young L, Jernigan RL, Covell DG. A role for surface hydrophobicity in protein–protein recognition. Protein Sci. 1994;3:717–729
  18. Jones S, Thornton JM. Principles of protein–protein interactions. Proc Natl Acad Sci USA. 1996;93:13–20
  19. Tsai C, Lin SL, Wolfson HJ, Nussinov R. Studies of protein–protein interfaces: a statistical analysis of the hydrophobic effect. Protein Sci. 1997;6:53–64
  20. Caflish A. Computational models for the prediction of polypeptide aggregation propensity. Curr Opin Chem Biol. 2006;10:437–444
  21. Chennamsetty N, Voynov V, Kayser V, Helk B, Trout BL. Design of therapeutic proteins with enhanced stability. Proc Natl Acad Sci USA. 2009;106:11937–11942
  22. Chiti F, Dobson CM. Amyloid formation by globular proteins under native conditions. Nat Chem Biol. 2009;5:15–22
  23. Dobyns WB, Filauro A, Tomson BN, et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A. 2004;129A:136–143
  24. Humphrey W, Dalke A, Schulten K. VMD — visual molecular dynamics. J Mol Graph. 1996;14:33–38

PII: S0022-510X(10)00287-X

doi: 10.1016/j.jns.2010.06.017

Journal of the Neurological Sciences
Volume 296, Issue 1 , Pages 22-29 , 15 September 2010

Article Tools

* Image Usage & Resolution