JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES) ›› 2014, Vol. 52 ›› Issue (10): 90-95.doi: 10.6040/j.issn.1671-7554.0.2014.393

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Analysis of SLC26A4 gene mutations in 5 families associated with enlarge vestibular aqueduct syndrome

ZHU Famei1, ZHENG Jiafa1, XIE Dinghua2, HU Peng2   

  1. 1. Department of Otolaryngology, the Affiliated Nanhua Hospital，University of South China，Hengyang 421002，Hunan，China;
    2. Department of Otolaryngology，Second Xiangya Hospital of Central South University，Changsha 410001，Hunan，China
  • Received:2014-06-16 Revised:2014-09-25 Online:2014-10-10 Published:2014-10-10

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Abstract: Objective To analyze the molecular epidemiology of SLC26A4 mutations in 5 families associated with enlarge vestibular aqueduct syndrome(EVAS). Methods 5 families associated with EVAS were included in this study. Family history and clinical information were collected from all families. Genomic DNA samples were extracted from peripheral blood of all the members in those families and examined with the DNA microarray and sequencing in SLC26A4 gene. Results We found 5 types of mutation totally, including IVS7-2A>G,2168A>G,1229C>T,IVS15+5G>A and 679G>C. Compound heterozygous mutations in SLC26A4 gene were found in 6 patients, and 11 cases of normal hearing were also heterozygous carriers of mutation. IVS7-2A>G was the most common mutation. Conclusion Hearing loss in the 6 patients of the 5 families is all caused by different biallelic mutations of SLC26A4, in accordance with autosomal recessive genetic mechanisms.

Key words: Vestibular aqueduct, Hereditary hearing loss, Mutation

CLC Number: 

  • R764.43
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