May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Identification of a Novel Gene Mutated in Patients With Juvenile Cataract Associated With Microcornea and Glucosuria
Author Affiliations & Notes
  • B. Kloeckener
    Division of Medical Molecular Genetics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Department of Biology, ETH Zurich, Zurich, Switzerland
  • G. Nürnberg
    University of Cologne, Cologne Center for Genomics, Cologne, Germany
    RZPD Deutsches Ressourcenzentrum für Genomforschung GmbH, Berlin, Germany
  • J. Neidhardt
    Division of Medical Molecular Genetics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
  • C. Zeitz
    Division of Medical Molecular Genetics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    UMR S 592, Institut de la Vision, Université Paris, Paris, France
  • S. Labs
    Division of Medical Molecular Genetics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
  • K. Vandekerckhove
    Eye Cinic, Kanton Hospital, Luzern, Luzern, Switzerland
    Eye Clinic, Inselspital Bern, Bern, Switzerland
  • P. Nürnberg
    University of Cologne, Cologne Center for Genomics, Cologne, Germany
    Institute for Genetics, University of Cologne, Cologne, Germany
  • W. Berger
    Division of Medical Molecular Genetics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
  • Footnotes
    Commercial Relationships  B. Kloeckener, None; G. Nürnberg, None; J. Neidhardt, None; C. Zeitz, None; S. Labs, None; K. Vandekerckhove, None; P. Nürnberg, None; W. Berger, None.
  • Footnotes
    Support  German Federal Ministry of Sciences and Education through the National Genome Research Network (01GR0416 to P.N.); Scientific Grant from the Eyeclinic of the Kanton Hospital Luzern Switzerland
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1306. doi:https://doi.org/
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    • Get Citation

      B. Kloeckener, G. Nürnberg, J. Neidhardt, C. Zeitz, S. Labs, K. Vandekerckhove, P. Nürnberg, W. Berger; Identification of a Novel Gene Mutated in Patients With Juvenile Cataract Associated With Microcornea and Glucosuria. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1306. doi: https://doi.org/.

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

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Abstract

Purpose: : Identification of a pathogenic mutation in a Swiss family with the novel phenotype of autosomal dominant (ad) juvenile cataract, microcornea and renal glucosuria.

Methods: : Clinical features of patients from a Swiss family affected by juvenile cataract, microcornea and renal glucosuria have been described (Vandekerckhove et al. Klin Monatsbl Augenheilkd 2007). DNAs from affected and unaffected family members were subjected to linkage mapping and sequencing of candidate genes. Expression analyses were performed using RT-PCR experiments.

Results: : Linkage studies identified a 3cM interval on chromosome 10q23 as containing the pathogenic mutation. Several candidate genes were sequenced and a heterozygous premature termination codon mutation was found in the coding region of the monocarboxylate transporter SLC16A12 gene in patients from the Swiss family. RT-PCR experiments of this novel gene indicated tissue-specific regulation of expression with high levels of transcripts in kidney and lens.

Conclusions: : With these experiments we identified a novel gene encoding the monocarboxylate transporter SLC16A12 of until now unknown biological function. Alteration of this protein can lead to the development of ad cataract, microcornea and glucosuria. We are discussing its potenial as risk factor for age-related cataract. The function of the transporter may be relevant for lens and kidney homeostasis.

Keywords: gene mapping • gene/expression • cataract 
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