Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma

Nishtha Pandey, Dennis F. Xavier, Arunima Chatterjee, Ram Shankar Mani, Ravi Hiremagalore, Ajith Tharakan, B. Rajashekhar, Anuranjan Anand

    Research output: Contribution to journalReview article

    Abstract

    Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.

    Original languageEnglish
    Pages (from-to)11-19
    Number of pages9
    JournalAnnals of Human Genetics
    Volume80
    Issue number1
    DOIs
    Publication statusPublished - 01-01-2016

    Fingerprint

    Ichthyosis
    Gap Junctions
    Hearing Loss
    Skin
    Mutation
    Cytoplasm
    Chromosomes
    Genome
    Phenotype
    Genes
    neurobiotin

    All Science Journal Classification (ASJC) codes

    • Genetics
    • Genetics(clinical)

    Cite this

    Pandey, Nishtha ; Xavier, Dennis F. ; Chatterjee, Arunima ; Mani, Ram Shankar ; Hiremagalore, Ravi ; Tharakan, Ajith ; Rajashekhar, B. ; Anand, Anuranjan. / Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. In: Annals of Human Genetics. 2016 ; Vol. 80, No. 1. pp. 11-19.
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    abstract = "Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.",
    author = "Nishtha Pandey and Xavier, {Dennis F.} and Arunima Chatterjee and Mani, {Ram Shankar} and Ravi Hiremagalore and Ajith Tharakan and B. Rajashekhar and Anuranjan Anand",
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    Pandey, N, Xavier, DF, Chatterjee, A, Mani, RS, Hiremagalore, R, Tharakan, A, Rajashekhar, B & Anand, A 2016, 'Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma', Annals of Human Genetics, vol. 80, no. 1, pp. 11-19. https://doi.org/10.1111/ahg.12141

    Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. / Pandey, Nishtha; Xavier, Dennis F.; Chatterjee, Arunima; Mani, Ram Shankar; Hiremagalore, Ravi; Tharakan, Ajith; Rajashekhar, B.; Anand, Anuranjan.

    In: Annals of Human Genetics, Vol. 80, No. 1, 01.01.2016, p. 11-19.

    Research output: Contribution to journalReview article

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    AU - Pandey, Nishtha

    AU - Xavier, Dennis F.

    AU - Chatterjee, Arunima

    AU - Mani, Ram Shankar

    AU - Hiremagalore, Ravi

    AU - Tharakan, Ajith

    AU - Rajashekhar, B.

    AU - Anand, Anuranjan

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    AB - Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.

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