Ontology highlight
ABSTRACT:
SUBMITTER: Dodson KM
PROVIDER: S-EPMC3080433 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Dodson Kelley M KM Blanton Susan H SH Welch Katherine O KO Norris Virginia W VW Nuzzo Regina L RL Wegelin Jacob A JA Marin Ruth S RS Nance Walter E WE Pandya Arti A Arnos Kathleen S KS
American journal of medical genetics. Part A 20110404 5
Mutations of GJB2 and GJB6 (connexin-26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness. Despite their widespread expression throughout the vestibular system, vestibular dysfunction has not been widely recognized as a commonly associated clinical feature. The observations of vertigo accompanying DFNB1 deafness in several large families prompted our hypothesis that vestibular dysfunction may be an integral, but often overlooked, component of DFNB ...[more]