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

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Abstract

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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Acknowledgments

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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Authors and Affiliations

  1. Tianjin Eye Institute, Tianjin Eye Hospital, Tianjin Medical University, 300020, Tianjin, China

    Yongjia Yang, Jihong Guo, Ningdong Li, Juan Bu, Song Tao Yuan & Kanxing Zhao

  2. School of Biosciences and Technologies of CSU, 410013, Changsha, China

    Yongjia Yang, Qiong Pang & Yuxiang Chen

  3. School of Nursing of CSU, 410013, Changsha, China

    Siyuan Tang & Mengrong Yang

  4. Institute of Radiation Medicines, Chinese Academy of Medical Sciences and Peking Union Medical College, 300192, Tian Jin, China

    Zheng Liu, Feiyue Fan & Xiangjun Xiao

Authors
  1. Yongjia Yang
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  2. Jihong Guo
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  3. Zheng Liu
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  4. Siyuan Tang
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  5. Ningdong Li
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  6. Mengrong Yang
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  7. Qiong Pang
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  8. Feiyue Fan
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  9. Juan Bu
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  10. Song Tao Yuan
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  11. Xiangjun Xiao
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  12. Yuxiang Chen
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  13. Kanxing Zhao
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Corresponding authors

Correspondence to Yuxiang Chen or Kanxing Zhao.

Additional information

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). https://doi.org/10.1007/s00439-006-0206-1

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  • DOI: https://doi.org/10.1007/s00439-006-0206-1

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