TY - JOUR T1 - Mutation of <em>COL11A2</em> causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus JF - Journal of Medical Genetics JO - J Med Genet SP - e61 LP - e61 DO - 10.1136/jmg.2005.032615 VL - 42 IS - 10 AU - W Chen AU - K Kahrizi AU - N C Meyer AU - Y Riazalhosseini AU - G Van Camp AU - H Najmabadi AU - R J H Smith Y1 - 2005/10/01 UR - http://jmg.bmj.com/content/42/10/e61.abstract N2 - Background: Allele variants of COL11A2, encoding collagen type XI α2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype. Objective: To describe a genome-wide scan carried out on a consanguineous Iranian family segregating ARNSHL. Results: Genotyping data identified a novel locus for ARNSHL on chromosome 6p21.3, which was designated DFNB53. Homozygosity for the P621T mutation of COL11A2 was present in all deaf persons in this family; this same variation was absent in 269 Iranian controls. Sequence comparison of collagen type XI α1 and α2 peptides across species shows that the replaced proline is an evolutionarily conserved amino acid. Conclusions: The P621T mutation of COL11A2 affects the Y position of the canonical -Gly-X-Y- repeat in collagens. It lies near the amino-terminus of the triple helical region and causes ARNSHL. This finding suggests that mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases. ER -