Please use this identifier to cite or link to this item: http://lib.jncasr.ac.in:8080/jspui/handle/10572/2175
Title: Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma
Authors: Pandey, Nishtha
Xavier, Dennis F.
Chatterjee, Arunima
Mani, Ram-Shankar
Hiremagalore, Ravi
Tharakan, Ajith
Rajashekhar, B.
Anand, Anuranjan
Keywords: Genetics & Heredity
Connexin30
neurobiotin
gap junction
sensorineural hearing loss
palmoplantar keratoderma
ichthyosis
cutaneous nodules
Sensorineural Deafness
Palmoplantar Keratoderma
Developmental Expression
Ectodermal Dysplasia
Missense Mutation
Gap-Junctions
Knuckle Pads
Gjb2
Gene
Impairment
Issue Date: 2016
Publisher: Wiley-Blackwell
Citation: Pandey, N.; Xavier, D. F.; Chatterjee, A.; Mani, R. S.; Hiremagalore, R.; Tharakan, A.; Rajashekhar, B.; Anand, A., Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. Annals of Human Genetics 2016, 80 (1), 11-19 http://dx.doi.org/10.1111/ahg.12141
Annals of Human Genetics
80
1
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.
Description: Restricted Access
URI: http://hdl.handle.net/10572/2175
ISSN: 0003-4800
Appears in Collections:Research Papers (Anuranjan Anand)

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