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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

Authors

  • Helena Simões-Teixeira,

    1. Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal
    2. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain
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  • Tiago D. Matos,

    1. Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal
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  • Marta Canas Marques,

    1. ORL Service, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal
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  • Óscar Dias,

    1. ORL Service, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal
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  • Mário Andrea,

    1. ORL Service, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal
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  • Eduardo Barreiros,

    1. Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal
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  • Luís Barreiros,

    1. Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal
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  • Felipe Moreno,

    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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  • Graça Fialho,

    1. Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal
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  • Helena Caria,

    1. Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal
    2. Higher School of Health, Polytechnic Institute of Setúbal, Setúbal, Portugal
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  • Ignacio del Castillo

    Corresponding author
    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
    • Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar, km 9, 28034 Madrid, Spain.
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  • How to Cite this Article: Simões-Teixeira H, Matos TD, Marques MC, Dias Ó, Andrea M, Barreiros E, Barreiros L, Moreno F, Fialho G, Caria H, del Castillo I. 2011. Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family. Am J Med Genet Part A 155:924–927.

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