Non-Syndromic Hearing Loss and High-Throughput Strategies to Decipher Its Genetic Heterogeneity

Liu Xue Zhong, Shan Kun, Qing Jing, Cheng Jing, Yan Denise

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Hearing loss (HL) is the most common sensory disorder, affecting all age groups, ethnicities, and genders. According to World Health Organization (WHO) estimates in 2005, 278 million people worldwide have moderate to profound HL in both ears. Results of the 2002 National Health Interview Survey indicate that nearly 31 million of all non-institutionalized adults (aged 18 and over) in the United States have trouble hearing. Epidemiological studies have estimated that approximately 50% of profound HL can be attributed to genetic causes. With over 60 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. Recent progress in identifying genes responsible for hearing loss enables otolaryngologists and other clinicians to apply molecular diagnosis by genetic testing. The advent of the $1000 genome has the potential to revolutionize the identification of genes and their mutations underlying genetic disorders. This is especially true for extremely heterogeneous Mendelian conditions such as deafness, where the mutation, and indeed the gene, may be private. The recent technological advances in target-enrichment methods and next generation sequencing offer a unique opportunity to break through the barriers of limitations imposed by gene arrays. These approaches now allow for the complete analysis of all known deafness-causing genes and will result in a new wave of discoveries of the remaining genes for Mendelian disorders. This review focuses on describing genotype-phenotype correlations of the most frequent genes including GJB2, which is responsible for more than half of cases, followed by other common genes and on discussing the impact of genomic advances for comprehensive genetic testing and gene discovery in hereditary hearing loss.

Original languageEnglish (US)
Pages (from-to)6-24
Number of pages19
JournalJournal of Otology
Issue number1
StatePublished - Jun 2013

ASJC Scopus subject areas

  • Otorhinolaryngology


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