Article
Hearing Impairment with Monoallelic GJB2 Variants: A GJB2 Cause or Non-GJB2 Cause?
The Journal of molecular diagnostics : JMD - 1 Oct 2021
Lin Yi-Hsin, Wu Ping-Che, Tsai Cheng-Yu, Lin Yin-Hung, Lo Ming-Yu, Hsu Shu-Jui, Lin Pei-Hsuan, Erdenechuluun Jargalkhuu, Wu Hung-Pin, Hsu Chuan-Jen, Wu Chen-Chi, Chen Pei-Lung
Abstract excerpt
Recessive variants in GJB2 are the most common genetic cause of sensorineural hearing impairment. However, in many patients, only one variant in the GJB2 coding region is identified using conventional sequencing strategy (eg, Sanger sequencing), resulting in nonconfirmative diagnosis. Conceivably, there might be other unidentified pathogenic variants in the noncoding region of GJB2 or other deafness-causing genes...
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