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 journalArticle

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 (US)
Pages (from-to)11-19
Number of pages9
JournalAnnals of Human Genetics
Volume80
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

    Fingerprint

Keywords

  • Connexin30
  • Cutaneous nodules
  • Gap junction
  • Ichthyosis
  • Neurobiotin
  • Palmoplantar keratoderma
  • Sensorineural hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this