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《Chinese Archives of Otolaryngology-Head and Neck Surgery》 2006-05
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Genetic testing for the enlarged vestibular aqueduct syndrome and mutation analysis of the SLC26A4 gene

DAI Pu1, HAN Dongyi1, FENG Bo, KANG Dongyang1,LIU Xin1, YUAN Huijun1, CAO Juyang1, ZHANG Xin1, ZHAI Suoqiang1,YANG Weiyan, WU Bailin2 (1 Department Otolaryngology Head and Neck Surgery,Otolaryngol Institute, Genetic Testing Center for Deafness, PLA General Hospital,Beijing,100853,China; 2 Department of Laboratory Medicine and Pathology, Children’s Hospital and Harvard Medical School, Boston, 02115, USA)  
OBJECTIVE DHPLC (Denatured high performance liquid Chromatography) and sequencing analysis were used to screen all exons of SLC26A4 gene in the patients with enlarged vestibular aqueduct (EVA). The phenotypes and genotypes of this disease were analyzed. METHODS Thirty-eight EVA patients from 35 families suffered from moderate to severe or profound sensori-neuro hearing loss were selected. Diagnosis was confirmed by high-resolution CT scan in each case. DHPLC-plus sequencing were used to analyze the genotype of SLC26A4 in each subject. RESULTS Thirty-two patients (32/35, 91.4%) were found to carry at least one mutation in the SLC26A4 gene. Eleven probands were homozygous for SLC26A4 mutations, 9 carried compound SLC26A4 mutations, while 12 were single heterozygous for SLC26A4 mutation. Eight types of SLC26A4 mutation were revealed. IVS 7-2 AG and 2168 AG were the most and second most common mutations, respectively.1199-1200insT,946GT,and 916-917 ins G were SLC26A4 mutations unreported hitherto, which may be specific to the Chinese population. CONCLUSION The EVA syndrome is a typical autosomal recessivehereditary disease caused by mutations in SLC26A4 gene. Genetic testing of SLC26A4 is the one of the important diagnostic methods for EVA syndrome.
【Fund】: 国家自然科学基金面上项目(30572015);; 北京市自然科学基金面上项目(7062062)联合资助
【CateGory Index】: R764
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