5个大前庭水管综合征家系SLC26A4基因的检测分析

doi:10.6040/j.issn.1671-7554.0.2014.393

山东大学学报（医学版） ›› 2014, Vol. 52 ›› Issue (10): 90-95.doi: 10.6040/j.issn.1671-7554.0.2014.393

5个大前庭水管综合征家系SLC26A4基因的检测分析

朱发梅¹, 郑家法¹, 谢鼎华², 胡鹏²

1. 南华大学附属南华医院耳鼻咽喉科, 湖南衡阳 421002;
2. 中南大学湘雅二医院耳鼻咽喉科, 湖南长沙 410001

收稿日期:2014-06-16 修回日期:2014-09-25 出版日期:2014-10-10 发布日期:2014-10-10
通讯作者: 谢鼎华。E-mail：dhuaxie@163.com E-mail:dhuaxie@163.com

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

ZHU Famei¹, ZHENG Jiafa¹, XIE Dinghua², HU Peng²

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

摘要/Abstract

摘要： 目的分析5个大前庭水管综合征家系SLC26A4基因的分子流行病学特点。方法收集5个大前庭水管综合征家系的病史资料和家系成员的外周血，提取基因组DNA，应用耳聋基因芯片联合DNA测序法对5个家系的6例耳聋患者及11例听力正常者进行SLC26A4基因突变检测。结果 5个家系中共发现SLC26A4基因IVS7-2A>G、2168A>G、1229C>T、IVS15+5G>A、679G>C 5种不同的已知致病突变，6例患者均为复合杂合突变，11例听力正常者均为单个等位基因突变的杂合携带者。在所有的突变中，IVS7-2A>G突变的发生率最高。结论 5个家系的6例耳聋患者都是SLC26A4基因复合杂合突变导致前庭水管扩大，符合常染色体隐性遗传机制。

关键词: 遗传性耳聋, 基因突变, 前庭水管

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

中图分类号:

R764.43

朱发梅, 郑家法, 谢鼎华, 胡鹏. 5个大前庭水管综合征家系SLC26A4基因的检测分析[J]. 山东大学学报（医学版）, 2014, 52(10): 90-95.

ZHU Famei, ZHENG Jiafa, XIE Dinghua, HU Peng. Analysis of SLC26A4 gene mutations in 5 families associated with enlarge vestibular aqueduct syndrome[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2014, 52(10): 90-95.

参考文献

[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.

相关文章 15

[1]	丁婷婷,刘浩辰. WNT10A双等位基因突变导致非综合征型先天缺牙1例的遗传学分析及文献复习[J]. 山东大学学报 (医学版), 2025, 63(3): 92-98.
[2]	陈倩,仇一帆,陈世龙,王超,董亮,孙丛丛. 成人囊性纤维化1例并文献复习[J]. 山东大学学报 (医学版), 2024, 62(7): 42-47.
[3]	曹广磊,李季,闫飞,林鹏,侯为开,侯新国,陈丽. 甲状腺激素抵抗综合征伴高泌乳素血症1例[J]. 山东大学学报 (医学版), 2023, 61(6): 113-116.
[4]	包瑾瑾,刘庆燕,孙甜甜,陈青,刘佳. 糖尿病相关抗体阳性合并MODY14相关APPL1基因突变1例[J]. 山东大学学报 (医学版), 2023, 61(12): 113-118.
[5]	刘馨,侯新国,刘继东,赵红霞. 伴TSHR基因突变促甲状腺激素抵抗综合征1例[J]. 山东大学学报 (医学版), 2023, 61(10): 113-116.
[6]	薛美娟,石艳,邵琳琳,王琳,张昀,张阿敏. 遗传性血栓性血小板减少性紫癜1例并文献复习[J]. 山东大学学报 (医学版), 2022, 60(3): 121-124.
[7]	潘鹏飞,徐立升,纪坤乾,王得翔,李玉. 以呼吸衰竭起病的线粒体肌病1例及文献回顾[J]. 山东大学学报 (医学版), 2022, 60(2): 54-59.
[8]	亓梦雨,周敏然,孙洺山,李世洁,陈春燕. T大颗粒淋巴细胞白血病合并原发性骨髓纤维化1例[J]. 山东大学学报 (医学版), 2022, 60(2): 118-120.
[9]	史本康,陈守臻,曲思凤,王勇,刘磊. 临床常见快速进展前列腺癌临床特点及研究进展[J]. 山东大学学报 (医学版), 2021, 59(9): 110-116.
[10]	孙宇,陈娜,马爱华. SLC35A2基因突变致先天性糖基化障碍1例[J]. 山东大学学报 (医学版), 2021, 59(4): 113-116.
[11]	黄秀丽,刘丙菊,孙立锋. PIK3CD基因突变致PI3Kδ过度活化综合征1例并文献复习[J]. 山东大学学报 (医学版), 2021, 59(3): 107-112.
[12]	王正阳,夏艳,师凯旋,陶琨,王小杰. 曲美替尼在卵巢癌中对PAX8的表达作用[J]. 山东大学学报 (医学版), 2021, 59(10): 25-31.
[13]	刘娜,刘奇迹,牟凯,程翠云. EBF3基因杂合突变导致1例神经发育障碍综合征[J]. 山东大学学报 (医学版), 2020, 58(4): 105-109.
[14]	丁婷婷,邹东,刘浩辰. 一个非综合征型先天缺牙家系的MSX1基因突变分析[J]. 山东大学学报 (医学版), 2019, 57(4): 97-100.
[15]	窦春慧,邵建华,董学斌,张凌,陈萍,赵红玉,顾琳萍,孙琳,解杰,王敏,王娟,李娜,李凡,李大启. 骨髓增生异常综合征患者基因突变对地西他滨临床疗效的影响[J]. 山东大学学报 (医学版), 2019, 57(3): 42-48.

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed

5个大前庭水管综合征家系SLC26A4基因的检测分析

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

PDF (PC)

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

多维度评价

本文评价

推荐阅读 0