JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY) ›› 2017, Vol. 31 ›› Issue (6): 39-41.doi: 10.6040/j.issn.1673-3770.0.2017.443

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A novel PAX3 mutation causing type I Waardenburg syndrome.

XU Xinbo, MA Xiaojie, YAN Tao, HAN Xiao, ZHANG Hanbing   

  1. Department of Otolaryngology, Qilu Hospital of Shandong University, Key Laboratory of Otolaryngology, Jinan 250012, Shandong, China
  • Received:2017-10-24 Online:2017-12-16 Published:2017-12-16

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Abstract: Objective To determine PAX3 mutations associated with type I Waardenburg syndrome. Method Using a sequencing technique, we identified mutations in the proband and each member of the family. Result Type I Waardenburg was present in 11 members and in three generations of this family. Both the proband and his mother had a novel PAX3 c.358G>T p.GLu120* mutation that might stop the translation of PAX3 mRNA. Conclusion This novel PAX3 mutation is of clinical significance in prenatal diagnosis.

Key words: PAX3, Waardenburg Syndrome, Mutation

CLC Number: 

  • R764
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