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Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene

Authors

  • Kucinskas Laimutis,

    1. Institute of Biological Systems and Genetics Research, Lithuanian University of Health Sciences, Kaunas, Lithuania
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  • Craig Jackson,

    1. UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin
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  • Xinjie Xu,

    1. UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin
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  • Berta Warman,

    1. Division of Genetics and Metabolism, Departments of Pediatrics, Ophthalmology and Genetics Cell Biology and Development, Developmental Biology Center, Institute of Human Genetics, University of Minnesota, Minneapolis Minnesota
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  • Rudaitis Sarunas,

    1. Children Clinics, Hospital of Lithuanian University of Health Sciences, Lithuanian University of Health Sciences, Kaunas, Lithuania
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  • Irena Andriuskeviciute,

    1. Institute of Biological Systems and Genetics Research, Lithuanian University of Health Sciences, Kaunas, Lithuania
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  • Pundziene Birute,

    1. Children Clinics, Hospital of Lithuanian University of Health Sciences, Lithuanian University of Health Sciences, Kaunas, Lithuania
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  • Lisa A. Schimmenti,

    1. Division of Genetics and Metabolism, Departments of Pediatrics, Ophthalmology and Genetics Cell Biology and Development, Developmental Biology Center, Institute of Human Genetics, University of Minnesota, Minneapolis Minnesota
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  • Gordana Raca

    Corresponding author
    1. UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin
    2. Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin
    • Cancer Cytogenetics Laboratory, University of Chicago Medical Center, 5841 S. Maryland Avenue, I-229, MC 2115, Chicago, IL 60637.
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  • How to Cite this Article: Kucinskas L, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G. 2012. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. Am J Med Genet Part A. 158A:1437–1441.

Abstract

We present a patient with optic nerve hypoplasia, secondary strabismus, mild deafness, abnormal external ear helices, and renal hypoplasia. The clinical phenotype was consistent with renal-coloboma syndrome, but no point mutation in the PAX2 gene could be identified. High-resolution array comparative genomic hybridization (aCGH) analysis showed that this patient has a submicroscopic deletion on chromosome 10, affecting the entire coding region of the PAX2 gene. This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma syndrome. © 2012 Wiley Periodicals, Inc.

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