两个鳃耳综合征家系的临床表型及致病变异分析
Analysis of Clinical Phenotype and Pathogenic Variations in Two Families with Branchio-oto Syndrome
何万里;许红恩;刘梦丽;张腾;孙淑萍;卢伟
1:郑州大学第一附属医院耳鼻喉医院耳科
2:郑州大学医学科学院精准医学中心
摘要关键词基金项目(Foundation):作者参考文献1 Parkes WJ,Cushing SL,Blaser SI,et al.Transmastoid access in branchio-oto-renal syndrome:a reappraisal of computed tomography imaging[J].International Journal of Pediatric Otorhinolaryngology,2018,114:92-96.
2 陈岸海，凌捷，冯永.鳃耳综合征/鳃耳肾综合征的遗传学研究进展[J].中南大学学报(医学版),2022,47(1):129-138.
3 Pan Z,Lu W,Li X,et al.Multiplesynostoses syndrome:clinical report and retrospective analysis[J].Am J Med Genet A,2020,182(6):1438-1448.
4 Li H,Durbin R.Fast and accurate long-read alignment with Burrows-Wheeler transform[J].Bioinformatics,2010,26(5):589-595.
5 Mckenna A,Hanna M,Banks E,et al.The genome analysis toolkit:a map reduce framework for analyzing next-generation DNA sequencing data[J].Genome Res,2010,20(9):1297-1303.
6 Richards S,Aziz N,Bale S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology[J].Genet Med,2015,17(5):405-424.
7 Oza AM,Distefano MT,Hemphill SE,et al.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss[J].Hum Mutat,2018,39(11):1593-1613.
8 Vanslambrouck JM,Woodard LE,Suhaimi N,et al.Direct reprogramming to human nephron progenitor-like cells using inducible piggyBac transposon expression of SNAI2-EYA1-SIX1[J].Kidney Int,2019,95(5):1153-1166.
9 Feng H,Xu H,Chen B,et al.Genetic and phenotypic variability in chinese patients withbranchio-oto-renal or branchio-oto syndrome[J].Front Genet,2021,12:765433.
10 Wang YG,Sun SP,Qiu YL,et al.A novel mutation in EYA1 in a Chinese family with branchio-oto-renal syndrome[J].BMC Med Genet,2018,19(1):139.
11 王贺贺，孙敬武，万光伦，等.一个鳃-耳-肾综合征家系EYA1基因新致病性变异[J].听力学及言语疾病杂志，2021,29(3):266-270.
12 邹明臻，朱红美，魏钦俊，等.鳃-耳综合征一家系临床表型及遗传学特征分析[J].中华耳科学杂志，2015,13(1):106-109.
13 Han R,Xia Y,Liu Z,et al.A mutation of EYA1 gene in a Chinese Han family with branchio-oto syndrome[J].Medicine (Baltimore),2021,100(25):e24691.
14 刘梦婷，孟琦，叶祎菁，等.鳃耳综合征家系EYA1基因一个新的无义突变[J].中华耳科学杂志，2020,18(5):922-926.
15 Wang SH,Wu CC,Lu YC,et al.Mutation screening of the EYA1,SIX1,and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome[J].Laryngoscope,2012,122(5):1130-1136.
16 冯海锋，许红恩，陈蓓，等.5个鳃耳(肾)综合征家系的致病突变和诊疗分析[J].中华耳鼻咽喉头颈外科杂志，2022,57(12):1433-1441.
17 Li G,Shen Q,Sun L,et al.A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome[J].Intractable Rare Dis Res,2018,7(1):42-45.
18 Chen P,Liu H,Lin Y,et al.EYA1 mutations leads to branchio-oto syndrome in two Chinese Han deaf families[J].Int J PediatrOtorhinolaryngol,2019,123:141-145.
19 Xing ZK,Wang SY,Xia X,et al.Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family[J].Int J Pediatr Otorhinolaryngol,2020,138:110202.
20 宓娴贤，杨胜，沈学萍.一例鳃-耳-肾综合征孕妇的产前诊断[J].中华医学遗传学杂志，2019,36(12):1210-1212.
21 Chen X,Wang J,Mitchell E,et al.Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks[J].BMC Med Genet,2014,15:90.
22 Men M,Li W,Chen H,et al.Identification of a novel CNV at 8q13 in a family with branchio-oto-renal syndrome and epilepsy[J].Laryngoscope,2020,130(2):526-532.
23 Nam DW,Kang DW,Lee SM,et al.Molecular genetic etiology and revisiting the middle ear surgery outcomes of branchio-oto-renal syndrome:experience in a tertiary referral center[J].Otol Neurotol,2023,44(5):e319-e27.
24 孙淑萍，卢伟，朱丽雅，等.鳃-耳-肾综合征误诊为耳前瘘管二例[J].中华耳鼻咽喉头颈外科杂志，2014,49(4):330-332.
25 令娜娜，郭玉芬，徐百成.遗传性耳聋的三级预防策略进展[J].实用预防医学，2021,28(8):1021-1025.