Human Genetics

, Volume 104, Issue 5, pp 410–411

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

  • Susannah M. Walpole
  • Nathalie Ronce
  • Celene Grayson
  • Benoît Dessay
  • John R. W. Yates
  • D. Trump
  • Annick Toutain
Original investigation

DOI: 10.1007/s004390050976

Cite this article as:
Walpole, S., Ronce, N., Grayson, C. et al. Hum Genet (1999) 104: 410. doi:10.1007/s004390050976

Abstract

Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. Recent linkage studies have mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between DXS1053 and DXS443. We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected families. Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • Susannah M. Walpole
    • 1
  • Nathalie Ronce
    • 2
  • Celene Grayson
    • 1
  • Benoît Dessay
    • 2
  • John R. W. Yates
    • 1
  • D. Trump
    • 1
  • Annick Toutain
    • 2
  1. 1.Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 2XY, United Kingdom e-mail: dorothy.trump@cimr.cam.ac.uk, Tel.: +44 1223 331139, Fax: +44 1223 331206GB
  2. 2.Service de Génétique, Hôpital Bretonneau, Centre Hospitalo-Universitaire, 2 Boulevard Tonnellé, F-37044 Tours, FranceFR

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