May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
New Mutations in the NHS Gene in Nance–Horan Syndrome Families from the Netherlands
Author Affiliations & Notes
  • R.J. Florijn
    Molecular and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • W. Loves
    Molecular and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • L.J. J. M. Maillette de Buy Wenniger – Prick
    Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands
  • M.A. Mannens
    Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands
  • N. Tymes
    Bartimeus, Zeist, The Netherlands
  • S.P. Brooks
    Division of Molecular and Cellular Neuroscience, Institute of Ophthalmology, University College London, London, United Kingdom
  • A.J. Hardcastle
    Division of Molecular and Cellular Neuroscience, Institute of Ophthalmology, University College London, London, United Kingdom
  • A.A. B. Bergen
    Molecular and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands
  • Footnotes
    Commercial Relationships  R.J. Florijn, None; W. Loves, None; L.J.J.M. Maillette de Buy Wenniger – Prick, None; M.A. Mannens, None; N. Tymes, None; S.P. Brooks, None; A.J. Hardcastle, None; A.A.B. Bergen, None.
  • Footnotes
    Support  support of Algemene Nederlandse Vereniging ter Voorkoming van Blindheid
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 4623. doi:
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      R.J. Florijn, W. Loves, L.J. J. M. Maillette de Buy Wenniger – Prick, M.A. Mannens, N. Tymes, S.P. Brooks, A.J. Hardcastle, A.A. B. Bergen; New Mutations in the NHS Gene in Nance–Horan Syndrome Families from the Netherlands . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4623.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : We screened for mutations in the NHS gene, which causes Nance–Horan Syndrome (NHS), a rare X–chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies.

Methods: : We investigated the NHS gene in four additional families with Nance–Horan syndrome from The Netherlands, by dHPLC and direct sequencing.

Results: : We identified in each family a unique mutation, including three not reported before.

Conclusions: : We report here the first splice site defect and three protein truncating mutations. Our results suggest that X–linked cataract and Nance Horan Syndrome are allelic disorders.

Keywords: mutations • cataract • gene screening 
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