Pandey, Nishtha ; Xavier, Dennis F. ; Chatterjee, Arunima ; Mani, Ram-Shankar ; Hiremagalore, Ravi ; Tharakan, Ajith ; Rajashekhar, B. ; Anand, Anuranjan (2015) 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 00034800
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Official URL: http://doi.org/10.1111/ahg.12141
Related URL: http://dx.doi.org/10.1111/ahg.12141
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 |
|---|---|
| Source: | Copyright of this article belongs to John Wiley & Sons, Inc. |
| Keywords: | Connexin30; cutaneous nodules; gap junction; ichthyosis; neurobiotin; palmoplantar keratoderma; sensorineural hearing loss |
| ID Code: | 130417 |
| Deposited On: | 29 Nov 2022 11:57 |
| Last Modified: | 29 Nov 2022 11:57 |
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