R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma》.pdf

International Journal of Pediatric Otorhinolaryngology 78 (2014) 1461–1466 Contents lists available at ScienceDirect International Journal of Pediatric Otorhinolaryngology journal homepage: /locate/ijporl R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma Shu-juan Jiang a, Zheng-hong Di b, Dan Huang a, Jiu-bin Zhang c, Yuan-yuan Zhang a, Shu-qin Li d, Rong He a,* a Clinical Genetics Department, The Affi liated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China b Dermatological Department, The Affi liated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China c Orthopedics Department, The First Affi liated Hospital, China Medical University, 110001 Shenyang, Liaoning, PR China d Virus Laboratory, The Affi liated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China A R T I C L E I N F O A B S T R A C T Article history: Objectives: Mutations in the GJB2 gene encoding connexin 26 (Cx26) are major causes of hereditary Received 19 February 2014 deafness. This study aimed to characterize the mutation profiles of the GJB2 gene in a Chinese family with Received in revised form 1 June 2014 sensorineural hearing loss. Accepted 5 June 2014 Methods: A Chinese family that included three individuals with sensorineural hearing loss and Available online 16 June 2014 palmoplantar keratoderma underwent complete physical examinations, audi