Molecular Biology Reports

, Volume 41, Issue 7, pp 4321–4327 | Cite as

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome

  • Hui Ram Kim
  • Mee Hyun Song
  • Min-A Kim
  • Ye-Ri Kim
  • Kyu-Yup Lee
  • Jong Kyung Sonn
  • Jaetae Lee
  • Jae Young Choi
  • Un-Kyung Kim
Article
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Accepted:

Abstract

The EYA1 gene is known as the causative gene of BOR (Branchio-oto-renal) syndrome which is a genetic disorder associated with branchial cleft cysts of fistulae, hearing loss, ear malformation, and renal anomalies. Although approximately 40 % of patients with BOR syndrome have mutations in the EYA1 gene and over 130 disease-causing mutations in EYA1 have been reported in various populations, only a few mutations have been reported in Korean families. In this study, genetic analysis of the EYA1 gene was performed in a Korean patient diagnosed with BOR syndrome and his parents. A de novo novel missense mutation, c.418G>A, located at the end of exon 6, changed glycine to serine at amino acid position 140 (p.G140S) and was suspected to affect normal splicing. Our in vitro splicing assay demonstrated that this mutation causes exon 6 skipping leading to frameshift and truncation of the protein to result in the loss of eyaHR. To the best of our knowledge, this is the first report revealing that a missense mutation in the exon disturbs normal splicing as a result of a substitution of the last nucleotide of an exon in EYA1.

Keywords

BOR syndrome EYA1 Missense mutation Splicing Korean 
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Notes

Acknowledgments

This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2012R1A1A1015761 for M.H.Song, and 2011-0028066 for U. K. Kim and J. Y. Choi) the Korea Health Technology R&D Project, Ministry of Health &Welfare, Republic of Korea (A111345).

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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Hui Ram Kim
    • 1
  • Mee Hyun Song
    • 2
  • Min-A Kim
    • 1
  • Ye-Ri Kim
    • 1
  • Kyu-Yup Lee
    • 3
  • Jong Kyung Sonn
    • 1
  • Jaetae Lee
    • 4
  • Jae Young Choi
    • 5
  • Un-Kyung Kim
    • 1
  1. 1.Department of Biology, College of Natural SciencesKyungpook National UniversityDaeguSouth Korea
  2. 2.Department of Otorhinolaryngology, Kwandong University College of MedicineMyongji HospitalGoyangSouth Korea
  3. 3.Department of Otorhinolaryngology-Head and Neck Surgery, College of MedicineKyungpook National UniversityDaeguSouth Korea
  4. 4.Department of Nuclear MedicineKyungpook National University School of MedicineDaeguSouth Korea
  5. 5.Department of OtorhinolaryngologyYonsei University College of MedicineSeoulSouth Korea

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