Novel mutations in GJB6 and GJB2 in Clouston syndrome.
Xi'an, China. In Clin Exp Dermatol, 26 Apr 2015
We found a novel missense mutation, N14S, in GJB6 and the previously identified F191L mutation in GJB2 (Cx26) in a proband with CS in a Han Chinese pedigree; these mutations were not found in 200 ethnically matched nonconsanguineous Han Chinese controls.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Seoul, South Korea. In Korean J Audiol, Sep 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Consanguinity and hereditary hearing loss in Qatar.
Trieste, Italy. In Hum Hered, 2013
Among all HHL genes, GJB2, the major player worldwide, accounts for a minor proportion of cases and at least 3 additional genes have been found to be mutated in Qatari patients.