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A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2–q12


Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal dominant accessory auricular anomaly (ADAAA), we investigated a Chinese family with 11 affected individuals. We performed linkage analysis with microsatellite markers spanning the whole human-genome in the family. The inheritance pattern of the ADAAA family was autosomal dominant with complete penetrance. Two-point linkage analysis revealed significant maximum LOD scores of 4.20(D14S990 and D14S264, sita = 0) in the family. Haplotype construction and multipoint linkage analysis also confirmed the locus and defined the isolated ADAAA locus to a 9.84 cM interval between the markers D14S283 and D14S297. Our study assigned an isolated ADAAA locus to 14q11.2–q12. This is the first ADAAA locus reported to date.

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We would like to thank the family who participated in this study and to the reviewers for their many helpful comments. This work was supported by a Grant from the National Nature Science Foundation of China (No.30400240). A special thanks to Jennifer Ayers and Gareff Wise for language interpretation.

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Correspondence to Yuxiang Chen or Kanxing Zhao.

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Y. Yang and J. Guo contribute to this work equally.

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Yang, Y., Guo, J., Liu, Z. et al. A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2–q12. Hum Genet 120, 144–147 (2006).

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  • Linkage Analysis
  • HuNan Province
  • Chinese Family
  • Marker D14S283
  • Multipoint Linkage Analysis