Abstract
The collagen type XI alpha 2 gene (COL11A2) is associated with autosomal dominant non-syndromic hearing loss (ADNSHL), and all mutations of this gene in ADNSHL are missense mutations. To evaluate its potential as a major causative gene of ADNSHL in the Korean population, we performed genetic analysis of COL11A2 in 75 unrelated Korean patients with ADNSHL. Consequently, 5 non-synonymous variants, 7 synonymous variants, and 6 intronic variants were identified in COL11A2. Among them, a novel variant, p.G829R (c.2485G>C) was found in a patient as a heterozygote. However, pedigree analysis showed this variation was not co-segregated with hearing loss. Previously reported variants p.G230W (c.688G>T) and p.P1422L (c.4265C>T) were discovered in Korean patients. However, these variants were also detected in normal individuals. These results suggest that COL11A2 is not a major causative gene of ADNSHL in the Korean population.
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Acknowledgments
This work was supported by the National Research Foundation (NRF) of Korea, funded by the Ministry of Science, Information and Communications Technology (ICT) and Future Planning (Grant Number: 2015R1A2A2A01003438). This research was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (Grant Number: HI14C0384).
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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Sang-Joo Kim and Hong-Joon Park authors contributed equally to this work.
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Kim, SJ., Park, HJ., Sagong, B. et al. Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss. Genes Genom 38, 961–966 (2016). https://doi.org/10.1007/s13258-016-0440-4
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DOI: https://doi.org/10.1007/s13258-016-0440-4