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Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

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Abstract

Francois-Neetens fleck (mouchetée) corneal dystrophy is an autosomal dominant corneal dystrophy characterized by scattered small white flecks occurring at all levels of the corneal stroma. We report linkage of the CFD locus to D2S2289 (Zmax=4.46, θ=0), D2S325 (Zmax=3.28, θ=0), D2S317 (Zmax=3.1, θ=0), D2S143 (Zmax=3.8, θ=0.03), and D2S2382 (Zmax=5.0, θ=0) on chromosome 2q35. Multipoint analysis confirmed linkage to the region between D2S117 and D2S126 with a maximum multipoint lod score of 5.0 located midway between D2S2289 and D2S325. Analysis of CFD in these same families assuming a 90% penetrance increased the maximum lod score to 6.28 at D2S157.

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Acknowledgements

We acknowledge the families who donated samples to make this work possible and the support received from the Swiss National Science Foundation (grant no. 32–065250.01).

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Authors and Affiliations

  1. Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland, USA

    Xiaodong Jiao, Benjamin Rubin & J. Fielding Hejtmancik

  2. OGCSB/NEI/NIH, Building 10, Room 10B10, 10 Center DR MSC 1860, Bethesda, MD 20892-1860, USA

    J. Fielding Hejtmancik

  3. Oculogenetic Unit, Jules Gonin Eye Hospital and Division of Medical Genetics, Lausanne, Switzerland

    Francis L. Munier, Daniel F. Schorderet & Leonidas Zografos

  4. Office of the Clinical Director, National Eye Institute, Bethesda, Maryland, USA

    Janine Smith

Authors
  1. Xiaodong Jiao
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  2. Francis L. Munier
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  3. Daniel F. Schorderet
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  4. Leonidas Zografos
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  5. Janine Smith
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  6. Benjamin Rubin
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  7. J. Fielding Hejtmancik
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Corresponding author

Correspondence to J. Fielding Hejtmancik.

Additional information

X. Jiao and F. L. Munier made equivalent contributions to this study

Electronic database information: URLs for the data in this article are as follows:

OMIM database, http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html

Genethon database, http://www.genethon.fr/

Stanford Human Genome Center, http://shgc-www.stanford.edu/

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Jiao, X., Munier, F.L., Schorderet, D.F. et al. Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35. Hum Genet 112, 593–599 (2003). https://doi.org/10.1007/s00439-002-0905-1

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  • DOI: https://doi.org/10.1007/s00439-002-0905-1

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