Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss

• Published in: Genes & genomics Vol. 33; no. 2; pp. 205 - 207
• Main Authors: Kim, H.K., Kyungpook National University, Daegu, Republic of Korea, Kim, Y.H., Catholic University of Daegu, Daegu, Republic of Korea, Sagong, B.R., Kyungpook National University, Daegu, Republic of Korea, Kwon, T.J., Kyungpook National University, Daegu, Republic of Korea, Oh, S.K., Kyungpook National University, Daegu, Republic of Korea, Lee, H.J., Kyungpook National University, Daegu, Republic of Korea, Lee, K.Y., Kyungpook National University, Daegu, Republic of Korea, Lee, S.H., Kyungpook National University, Daegu, Republic of Korea, Kim, U.K., Kyungpook National University, Daegu, Republic of Korea
• Format: Journal Article
• Language: English
• Published: Heidelberg The Genetics Society of Korea 01.04.2011; 한국유전학회
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; GENE; GENES; Human Genetics; Life Sciences; Microbial Genetics and Genomics; MUTACION; MUTATION; Nonsyndromic hearing loss; Plant Genetics and Genomics; POLIMORFISMO; POLYMORPHISM; POLYMORPHISME; Short Communication; TMC1; 생물학; Nonsyndromic hearing loss; Mutation; Gene; Polymorphism
• ISSN: 1976-9571; 2092-9293
• DOI: 10.1007/s13258-010-0132-4

Hereditary nonsyndromic hearing loss (NSHL) is a highly heterogeneous disorder in humans. Mutations of the transmembrane channel-like (TMC1) gene have been identified as the genetic cause for both autosomal recessive (DFNB7/11) and autosomal dominant (DFNA36) nonsyndromic hearing loss. To evaluate the spectrum and frequency of mutation(s) caused by TMC1 gene in the Korean population, we have performed sequencing analysis of the PCR products amplified from genomic DNA of each proband in 193 unrelated families showing 30 autosomal dominant and 163 autosomal recessive inheritance patterns. As a result, we identified eight different novel sequence variations for the first time in this study, respectively. However, none of these showed co-segregation of phenotype in the families. Therefore, our study suggests that the TMC1 gene is not the cause of nonsyndromic hearing loss in the Korean population.