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

Rajashekhar, B and Hiremagalore, Ravi (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, 80 (1). pp. 11-19. ISSN 0003-4800

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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.

Item Type: Article
Uncontrolled Keywords: Connexin30, neurobiotin; Gap junction; Sensorineural hearing loss; Palmoplantar keratoderma; Ichthyosis; cutaneous nodules
Subjects: Allied Health > MCOAHS Manipal > Speech and Hearing
Depositing User: KMC Library
Date Deposited: 07 Nov 2016 08:48
Last Modified: 07 Nov 2016 08:48
URI: http://eprints.manipal.edu/id/eprint/147478

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