Human Genetics

, Volume 104, Issue 1, pp 56–63

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

  • J. Gecz
  • Elizabeth Baker
  • Andrew Donnelly
  • Jeffrey E. Ming
  • Donna M. McDonald-McGinn
  • Nancy B. Spinner
  • Elaine H. Zackai
  • Grant R. Sutherland
  • John C. Mulley
Original investigation

DOI: 10.1007/s004390050910

Cite this article as:
Gecz, J., Baker, E., Donnelly, A. et al. Hum Genet (1999) 104: 56. doi:10.1007/s004390050910

Abstract

Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome. We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup(X)(q26q28), inherited from his phenotypically normal mother. Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an ∼400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730. Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval. The gene structure of FHF2 was determined and two new exons were identified, including a new 5′ end exon, 1B. FHF2 is a large gene extending over ∼200 kb in Xq26.3 and is composed of at least seven exons. It shows tissue-specific alternative splicing and alternative transcription starts. Northern blot hybridisation showed highest expression in brain and skeletal muscle. The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • J. Gecz
    • 1
  • Elizabeth Baker
    • 1
  • Andrew Donnelly
    • 1
  • Jeffrey E. Ming
    • 4
  • Donna M. McDonald-McGinn
    • 4
  • Nancy B. Spinner
    • 4
  • Elaine H. Zackai
    • 4
  • Grant R. Sutherland
    • 1
  • John C. Mulley
    • 1
  1. 1.Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women’s and Children’s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia e-mail: jgecz@mad.adelaide.edu.au, Tel.: +61-8-8204-7023, Fax: +61-8-8204-7342AU
  2. 2.Department of Paediatrics, University of Adelaide, Adelaide, SA, AustraliaAU
  3. 3.Department of Genetics, University of Adelaide, Adelaide, SA, AustraliaAU
  4. 4.Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pa., USAUS