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

Previous Articles     Next Articles

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

PDF (PC)

269

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
[1] Pinto J A, Marqui A C, Perfeito D J, et al. Enlarged vestibular aqueduct syndrome: report of 3 cases and literature review[J]. Braz J Otorhinolaryngol, 2005, 71(3):386-391.
[2] Usami S, Abe S, Weston M D, et al. Non-syndrome in hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations[J]. Hum Genet, 1999, 104:188-192.
[3] Tsukamoto K, Suzuki H, Harada D, et al. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese[J]. Eur J Hum Genet, 2003, 11: 916.
[4] Borck G, Roth C, Martine U, et al. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation[J]. J Clin Endocrinol Metab, 2003, 88: 2916.
[5] 戴朴, 于飞, 杨伟炎, 等. 线粒体DNA1555位点和GJB2基因及SLC26A4基因的诊断方法及临床应用[J]. 中华耳鼻咽喉头颈外科杂志, 2005, 40(10): 769-773. DAI Pu, YU Fei, YANG Weiyan, et al. Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients[J]. Chinese Journal of Otolaryngology Head and Neck Surgery, 2005, 40(10):769-773.
[6] Valvassori G E, Clemis J D. The large vestibular aqueduct syndrome[J]. Laryngoscope, 1978, 88:723.
[7] 蒋璐, 冯永, 陈红胜, 等.中国湖南地区非综合征聋患者SLC26A4基因突变研究[J].临床耳鼻咽喉头颈外科杂志, 2010, 24(13): 587-591. JIANG Lu, FENG Yong, CHEN Hongsheng, et al. An investigation of SLC26A4 gene mutation in nonsyndromic hearing impairment in Hunan province of China[J]. Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010, 24(13):587-591.
[8] 赵亚丽, 李庆忠, 翟所强, 等. 95例前庭水管扩大核心家系SLC26A4基因特异突变图谱[J]. 听力学及言语疾病杂志, 2008, 16(3):171-177. ZHAO Yali, LI Qingzhong, ZHAI Suoqiang, et al. A distinct spectrum of SLC26A4 mutations in 95 nuclear families associated with enlarged vestibular aqueduct[J]. Journal of Audiology and Speech Pathology, 2008, 16(3):171-177.
[9] 王艳莉, 郭玉芬, 徐百成, 等. 大前庭水管综合征家系SLC26A4基因传递特征分析[J]. 听力学及言语疾病杂志, 2010, 18(3):229-232. WANG Yanli, GUO Yufen, XU Baicheng, et al. The hereditary features of SLC26A4 mutations in families associated with large vestibular aqueduct syndrome[J]. Journal of Audiology and Speech Pathology, 2010, 18(3):229-232.
[10] 赵亮, 王保龙, 孙敬武, 等. 大前庭水管综合征4个家系SLC26A4基因突变分析[J]. 安徽医科大学学报, 2013, 48(10): 1221-1224. ZHAO Liang, WANG Baolong, SUN Jingwu, et al. Analysis of SLC26A4 gene mutations in 4 families associated with large vestibular aqueduct syndrome[J]. Acta Universitatis Medicinalis Anhui, 2013, 48(10): 1221-1224.
[11] 田晓丽, 崔书平, 段乃超, 等. 两个大前庭水管综合征家系的临床及SLC26A4基因的检测分析[J]. 中华耳科学杂志, 2014, 12(1): 68-71. TIAN Xiaoli, CUI Shuping, DUAN Naichao, et al. Clinical and molecular diagnosis in two Chinese families with enlargement of vestibular aqueduct[J].Chinese Journal of Otology, 2014, 12(1): 68-71.
[1] HU Sicui, SUN Qing, WANG Yibing, SUN Lili, SUI Yanxi, LI Tang. Analysis of CLCNKB gene mutation in two families with Bartter syndrome [J]. Journal of Shandong University (Health Sciences), 2020, 1(9): 64-70.
[2] XU Jixi, CHEN Weijian. Diffuse midline glioma with H3 K27M mutation in the spinal cord: a case report [J]. Journal of Shandong University (Health Sciences), 2020, 1(7): 96-101.
[3] LIU He, LIU Fuqiang, HOU Xinguo, CHEN Li. A study of 11β-hydroxylase defect induced by a novel CYP11B1 gene mutation in one family [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2017, 55(9): 85-89.
[4] LU Min, CHEN Yun, DING Botong, CHANG Yali, ZHOU Yawei, ZHAO Aiping, GUO Nongjian. Gene detection and analysis for hemophilia B among populations in Shandong Province [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2015, 53(3): 87-92.
[5] SUN Jie, MU Xiaoyan, DONG Xueli. Combinational and sequential effect of sunitinib and gemcitabine on K-RAS mutant A549 cells [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2014, 52(3): 45-49.
[6] SUN Jin, HAN Bo, WEI Mei-li, YANG Wen-wei, WANG Jie-zhong, LIU Yong-jiao. Mutation screening of TFAP2B gene in children with patent ductus arteriosus [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2013, 51(3): 72-75.
[7] LIU Chen-fan1, WANG Zhen-ying2, SONG Huai-dong3, PAN Chun-ming3, ZHANG Li2. Mutation screening of candidate genes causing disseminated superficial porokeratosis [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2013, 51(1): 93-97.
[8] WANG Xue1，2, YANG Kun3, HAN Tao1, LI Wen-na1, WEI Kun-kun1, LIU Qi-ji2, LIU Xue-wu1. NOTCH 3 heterozygous mutation causing cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy 
in a Chinese family [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(9): 63-.
[9] QIU Shao-hui1, GUO Ming2. Analysis on RHD variants among RhD negative voluntary blood
donors in Linyi district of Shandong Province [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(8): 112-.
[10] WEI Tian-tian1,2, BAI Hua2， LI Jing-ran1, HU Ming2， QI Jing2, YUAN Shou-dao3, ZHANG Le-cui1， LIU Yu-qing2. The law of the resistant mutation of Escherichia coli strains continuously
induced with Enrofloxacin by ancestral gene reconstruction [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(5): 25-.
[11] SUN Ya-fang1, WANG Yin-chang2, WANG Lai-cheng3, JIAO Yu-lian3, CUI Bin3, XIA Yu3, LU Bing-ru3, ZHAO Yue-ran1,3. Mutation analysis of SQSTM1 and TNFRSF11A genes in
a Chinese family with Paget disease of bone [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(12): 107-113.
[12] DANG Ningning1,2, PANG Shuguang3, CHU Jingxue2, Dedee Murrell4, LI Chunyang1. The COL7A1 gene mutations in dystrophic epidermolysis bullosa [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(8): 84-89.
[13] YANG Fang, WANG Lei. Telbivudine-resistant mutation in patients with chronic hepatitis B:  a retrospective study of 15 cases [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(4): 129-132.
[14] FAN Gui-ling1， YAO Yong2， YAO Li3, JIA Chong-qi4. Association between Arg47His mutation in the ADH2 gene and chronic hepatitis B [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(11): 101-104.
[15] SUN Haiping, WANG Lei, YANG Fang. Pyrosequencing of nucleoside (acid) analogues-resistance mutation of the P gene of hepatitis B virus [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2010, 48(5): 85-.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
No Suggested Reading articles found!
Copyright 2018 © Editorial office of Journal of Shandong University (Health Sciences)
Supported by Beijing Magtech Co.Ltd