听神经病群体中G6PD基因变异分布及其表型特征分析  

Distribution of G6PD mutations and phenotypic characteristics in individuals with auditory neuropathy

作　　者：李丹阳 唐向荣 王洪阳[3] 吴丽书 刘丽华 关静[3] 王秋菊 Li Danyang;Tang Xiangrong;Wang Hongyang;Wu Lishu;Liu Lihua;Guan Jing;Wang Qiuju(School of Medicine,Nankai University,Tianjin 300071,China;Liuzhou Maternal and Child Health Hospital,Liuzhou 545001,China;Senior Department of Otolaryngology Head and Neck Surgery,the First Medical Center of Chinese PLA General Hospital,Chinese PLA Medical School,Beijing 100853,China)

机构地区：[1]南开大学医学院,天津300071 [2]柳州市妇幼保健院,柳州545001 [3]解放军总医院第一医学中心耳鼻咽喉头颈外科,北京100853

出　　处：《中华医学杂志》2025年第14期1107-1110,共4页National Medical Journal of China

基　　金：国家自然科学基金优秀青年基金(82222016);国家重点研发计划(2023YFC2508400,2023YFC2509800);广西自然科学基金(2024GXNSFAA010195)。

摘　　要：回顾性分析解放军总医院2015年8月至2024年6月行基因检测的298例听神经病(AN)患者资料,12例(12/298,4.0%)携带葡萄糖-6-磷酸脱氢酶(G6PD)基因致病变异,其中11例来自广西。12例携带G6PD基因致病变异的AN患者中,11例(男9例,女2例)有G6PD缺乏症表现,10例伴新生儿高胆红素血症。12例患者的听力学特征为典型AN表现,听力损失月龄为0(0,1)个月,11例为婴幼儿型AN。12例患者的遗传学分析发现4个G6PD变异位点,其中携带c.1388G>A致病变异的AN患者占比最高(8/12);携带3个致聋基因,包括GJB2、AIFM1和STRC基因。G6PD基因变异在AN中的分布存在地域差异,以广西AN群体为主,其致聋机制可能涉及新生儿高胆红素血症、遗传因素等。The data of 298 patients with auditory neuropathy(AN)who underwent genetic testing in Chinese PLA General Hospital from August 2015 to June 2024 were retrospectively reviewed,and 12 cases(4.0%)carried pathogenic glucose-6-phosphate dehydrogenase(G6PD)gene mutations were enrolled.Among them,11 patients were from Guangxi.There were 11 cases(9 males and 2 females)that showed symptoms of G6PD deficiency,and 10 cases had neonatal hyperbilirubinemia.The audiological characteristics of the 12 patients were typical AN manifestations,with the age of onset of hearing loss of 0(0,1)month,and 11 cases were classified as infant AN.Genetic analysis of the 12 patients identified four G6PD mutation,with the c.1388G>A pathogenic mutation being the most prevalent(8/12).Additionally,three deafness-associated genes,including GJB2,AIFM1,and STRC were identified.The current study indicates that there are regional differences in the distribution of G6PD gene variation in AN,predominantly in the AN population of Guangxi.The potential mechanisms of hearing loss may be related to neonatal hyperbilirubinemia,genetic factors and others.

关 键 词：葡糖磷酸脱氢酶缺乏 听神经病 葡萄糖-6-磷酸脱氢酶 遗传学特征 临床特征 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]