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Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome

Authors

  • Andrew J. Griffith MD, PhD,

    Corresponding author
    1. Section on Gene Structure and Function, National Institutes of Health, Bethesda, Maryland, U.S.A.
    2. Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, U.S.A.
    • Dr. Andrew J. Griffith, 5 Research Court, Room 2A-01, Rockville, MD 20850, U.S.A.
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  • Yandan Yang PhD,

    1. Section on Gene Structure and Function, National Institutes of Health, Bethesda, Maryland, U.S.A.
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  • Shannon P. Pryor MD,

    1. Section on Gene Structure and Function, National Institutes of Health, Bethesda, Maryland, U.S.A.
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  • Hong-Joon Park MD, PhD,

    1. Section on Gene Structure and Function, National Institutes of Health, Bethesda, Maryland, U.S.A.
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  • Ethylin Wang Jabs MD,

    1. Institute of Genetic Medicine, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
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  • Joseph B. Nadol Jr MD,

    1. Department of Otology and Laryngology, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A.
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  • Laura J. Russell MD,

    1. Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Canada
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  • Daniel I. Wasserman MD,

    1. Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, U.S.A.
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  • Gabriele Richard MD,

    1. Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, U.S.A.
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  • Joe C. Adams PhD,

    1. Department of Otology and Laryngology, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A.
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  • Saumil N. Merchant MD

    1. Department of Otology and Laryngology, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A.
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  • Currently from the Soree Ear Clinic (h.-j.p.), Seoul, Korea; the Department of Dermatology (d.i.w.), Boston University School of Medicine, Boston, Massachusetts, U.S.A.; and GeneDx, Inc. (g.r.), Gaithersburg, Maryland, U.S.A.

    This work was supported by NIDCD/NIH intramural research funds 1 Z01 DC000060-02 and 1 Z01 DC000064-02 (Dr. Griffith), NIH 13849 (Dr. Jabs), and by Mr. Axel Eliasen (Dr. Merchant).

Abstract

Objective: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26).

Study Design: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis.

Methods: The study subject was a male infant with keratitis–ichthyosis–deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones.

Results: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium.

Conclusions: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.

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