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 language | English (US) |
---|---|
Pages (from-to) | 11-19 |
Number of pages | 9 |
Journal | Annals of Human Genetics |
Volume | 80 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 2016 |
Keywords
- Connexin30
- Cutaneous nodules
- Gap junction
- Ichthyosis
- Neurobiotin
- Palmoplantar keratoderma
- Sensorineural hearing loss
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)