Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss

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• 作者：Sang-Joo Kim ; Hong-Joon Park ; Borum Sagong ; Seung-Hyun Bae ; Se-Kyung Oh…
• 关键词：Autosomal dominant non ; syndromic hearing loss ; COL11A2 ; DFNA13 ; Mutation ; Korean
• 刊名：Genes & Genomics
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：38
• 期：10
• 页码：961-966
• 全文大小：772 KB
• 刊物主题：Microbial Genetics and Genomics; Plant Genetics & Genomics; Animal Genetics and Genomics; Human Genetics;
• 出版者：Springer Netherlands
• ISSN：2092-9293
• 卷排序：38

文摘

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.