A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Susan ArndtRalf Birkenhäger

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder, characterized by hyperkeratosis and erythrokeratoderma associated with profound sensorineural hearing loss. Additional concomitant phenomena of the KID syndrome are dystrophic nails, dental abnormalities, scarring alopecia, and vascularizing keratitis. The disorder is caused by mutation in the GJB2 gene (connexin-26), a gap junction protein. The aim of this study was to explore the feasibility and procedure of cochlear implantation in patients with KID syndrome and to assess the genetic causes. Retrospective case review. Tertiary referral center. Cochlear implant program. We report on 2 cases of KID syndrome with congenital profound hearing loss. A 50-year-old woman with skin necrosis and implant extrusion 5 years after cochlear implantation and a 10-month-old infant girl with bilateral deafness, alopecia, bright light sensitivity, and congenital dermatosis. Genetic analysis. Cochlear implantation. Mutation analysis, surgical suitability, and hearing rehabilitation. We detected a novel heterozygous missense mutation (Ile30Asn) in Patient 1 and a de novo mutation (Asp50Asn) in the GJB2 gene (connexin-26) in Patient 2. To decrease the risk of skin flap ne...Continue Reading

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Mar 15, 2011·The Journal of Membrane Biology·Ioana AlesutanFlorian Lang
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Dec 21, 2019·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Mariem SidennaHatem Zayed

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