Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel
| Autor: | Xue Zhong Liu, Denise Yan, Susan H. Blanton, Kolsoum Saeidi, Afsaneh Sahebalzamani, Abhiraami Kannan-Sundhari |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Genetic Linkage MYO7A Hearing loss Mutation Missense Deafness Iran Biology 03 medical and health sciences 0302 clinical medicine CDH23 Genetic linkage Exome Sequencing otorhinolaryngologic diseases medicine Humans Exome Family Genetic Testing Child Hearing Loss Gene Genetics (clinical) Genetics Genetic heterogeneity High-Throughput Nucleotide Sequencing Original Articles General Medicine Middle Aged Pedigree 030104 developmental biology Child Preschool 030220 oncology & carcinogenesis Mutation Intercellular Signaling Peptides and Proteins Female medicine.symptom STRC |
| Zdroj: | Genet Test Mol Biomarkers |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2020.0153 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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