Screening consanguineous families for hearing loss using the miamiotogenes panel

Abhiraami Kannan-Sundhari, Denise Yan, Kolsoum Saeidi, Afsaneh Sahebalzamani, Susan H. Blanton, Xue Zhong Liu

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50-60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance. Methods: In our study, we used our targeted custom MiamiOtoGenes panel of 180 HL-associated genes to screen 23 unrelated consanguineous Iranian families with at least two affected children to identify potential causal variants for HL. Results: We identified pathogenic variants in seven genes (MYO7A, CDH23, GIPC3, USH1C, CAPB2, LOXHD1, and STRC) in nine unrelated families with varying HL profiles. These include five reported and four novel mutations. Conclusion: For small consanguineous families that were unsuitable for conventional linkage analysis the employment of the MiamiOtoGenes panel helped identify the genetic cause of HL in a cost-effective and timely manner. This rapid methodology provides for diagnoses of a significant fraction of HL patients, and identifies those who will need more extensive genetic analyses such as whole exome/genome sequencing.

Original languageEnglish (US)
Pages (from-to)674-680
Number of pages7
JournalGenetic Testing and Molecular Biomarkers
Volume24
Issue number10
DOIs
StatePublished - Oct 1 2020

Keywords

  • Consanguineous
  • Hearing loss
  • Panel screening

ASJC Scopus subject areas

  • Genetics(clinical)

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