A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family

• Published in: Journal of otology Vol. 11; no. 3; pp. 134 - 137
• Main Authors: Jiang, Hao, Shi, Xi, Qiu, Shiwei, Dong, Yanfen, Qiao, Yuehua, Wei, Dongzhi
• Format: Journal Article
• Language: English
• Published: China Elsevier (Singapore) Pte Ltd 01.09.2016; New World Institute of Biotechnology, State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, 130 Meilong Road, 200237, Shanghai, China%The Institute of Audiology and Balance Science of Xuzhou Medical University, Xuzhou, 221004, China%Clinical Hearing Center of Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221006, China; Chinese PLA General Hospital
• Subjects: Deafness gene screening; Gap junction; GJB2; Research article; Deafness gene screening; GJB2; Gap junction
• ISSN: 1672-2930; 2524-1753
• DOI: 10.1016/j.joto.2016.09.002

To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene. Both screening and sequencing results confirmed that the new born child had a normal GJB2 gene despite the fact that she has a brother suffering from hearing loss triggered by an allelic GJB2 c.176 del 16 mutation. We cloned the GJB2 genes derived from their respective blood genomic DNA into GFP fused plasmids and transfected those plasmids into the 293T cell line to test for gene function. While the mutated GJB2 gene (GJB2 c.176 del 16) of her deaf brother was found to be unable to form the gap junction structure between two adjacent cells, the baby girl's GJB2 gene ran into no such problems. The screening and sequencing as well as the GJB2 gene function tests invariably showed results consistent with the ABR tested hearing phenotype, which means that the child, with a normal wild type GJB2 gene, does not need early intervention to prevent her from developing hearing loss and dysphonia at a later stage in life.