[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].

原发性睫状体运动障碍 支气管扩张 纤毛 倒位 动力蛋白 医学 卡塔格综合征 基因突变 突变 运动纤毛 病理 遗传学 复合杂合度 基因 生物 微管 解剖 内科学
作者
Ke Wang,Xing Chen,Chunyan Guo,Fengqin Liu,JinRong Wang,Li-Feng Sun
出处
期刊:PubMed 卷期号:56 (2): 134-137 被引量:10
标识
DOI:10.3760/cma.j.issn.0578-1310.2018.02.012
摘要

Objective: To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Methods: Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. Related literatures on gene variation of PCD in Chinese were reviewed from Online Mendelian Inheritance in Man, Human Gene Mutation Database, PubMed and CNKI up to July 2017 by using search terms of "PCD" , "gene" , "Chinese". Results: There were one male and two females aged from 10 to 11 years. The common symptoms included recurrent respiratory infection, sinusitis and bronchiectasis. Two of them had situs inversus. Case 1 had lack of outer and inner dynein arms with compound heterozygous mutation of LRRC6. Case 2 had outer and inner dynein arms defects with heterozygous mutations of DNAH5 and DNAH11. Case 3 had abnormality in microtubule and inner dynein arms with homozygous mutation of CCDC39. All the variations mentioned above have not been reported before. Twelve cases have been reported about gene variations in PCD in Chinese from eight reports. All these patients had recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis. Nine of them had dextrocardia. Four cases have taken an effective nasal (or bronchial) mucosal biopsy. 1 case had inner and outer dynein arms defects. One case had inner dynein arms and radial spokes defects. One case had microtubule and central pair defects. And 1 case had normal cilia ultrastructure. Eight kinds of gene variations were found. Three cases had gene variations of DNAH5. 2 cases had gene variations of DYX1C1. 2 cases had gene variations of CCNO. There was 1 case with gene variations of CCDC39, CCDC40, HYDIN, ARMC4 and DNAI1 separately. Conclusions: Recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis are the common symptoms of PCD. Eleven of fifteen Chinese PCD patients with positive gene mutations were Kartagener syndrome. Cilia ultrastructure showed defects of inner and outer dynein arms, radial spokes, microtubule and central pair. Ten kinds of gene variations were found: DNAH5, DYX1C1, CCNO, CCDC39, CCDC40, HYDIN, ARMC4, DNAI1, LRRC6、DNAH11.目的: 探讨原发性纤毛运动障碍(PCD)临床、纤毛结构缺陷及基因变异特点。 方法: 对山东大学附属省立医院小儿呼吸科2013—2016年通过支气管黏膜活检纤毛电镜诊断的3例PCD患儿采用靶向目标捕获二代测序行基因检测,分析其临床表现、纤毛结构和基因变异特点,通过关键词"PCD""gene""Chinese"对在线人类孟德尔遗传数据库、人类基因组变异数据库、PubMed和中国知网建库至2017年7月的文献进行检索,分析总结已报道的中国PCD患者基因变异的病例资料。 结果: 3例患儿年龄10~11岁,1男2女,均有反复呼吸道感染、慢性鼻-鼻窦炎、支气管扩张,2例伴全内脏转位。例1支气管黏膜纤毛内外动力蛋白臂缺失,LRRC6基因复合杂合变异;例2支气管黏膜纤毛内外动力蛋白臂缺失,DNAH5和DNAH11基因杂合变异;例3支气管黏膜纤毛微管数目异常和内动力蛋白臂缺陷,CCDC39基因纯合变异。3例基因变异位点均为未报道的新变异。检索共筛选出8篇文献,共报道12例基因变异的PCD中国患者,均存在自幼反复呼吸道感染、慢性鼻-鼻窦炎、支气管扩张,其中合并右位心9例。4例进行了有效的鼻(或支气管)黏膜纤毛活检,纤毛内外动力蛋白臂缺失1例,内动力蛋白臂和放射辐缺失1例,外周微管对和中央微管对部分缺失1例,纤毛结构正常1例。共发现PCD相关致病基因变异8种,DNAH5基因变异3例,DYX1C1基因变异2例,CCNO基因变异2例,CCDC39、CCDC40、HYDIN、ARMC4、DNAI1基因变异各1例。 结论: PCD临床表现为自幼反复呼吸道感染、慢性鼻-鼻窦炎、支气管扩张。15例发现基因变异的中国PCD患者中11例为Kartagener综合征患者,纤毛结构可有内外动力蛋白臂、放射辐、外周微管对及中央微管对的缺陷,15例共发现10种PCD相关致病基因变异:DNAH5、DYX1C1、CCNO、CCDC39、CCDC40、HYDIN、ARMC4、DNAI1、LRRC6、DNAH11。.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
齐天大圣完成签到,获得积分10
1秒前
2秒前
2秒前
3秒前
3秒前
毛毛完成签到 ,获得积分10
5秒前
传奇3应助尹基忠采纳,获得10
5秒前
严三笑发布了新的文献求助10
5秒前
5秒前
6秒前
niniyiya发布了新的文献求助10
6秒前
东方三问发布了新的文献求助20
6秒前
呆萌火龙果完成签到 ,获得积分10
7秒前
8秒前
唐兴田发布了新的文献求助10
8秒前
9秒前
严三笑完成签到,获得积分10
11秒前
沈阳发布了新的文献求助10
11秒前
赘婿应助wang采纳,获得10
12秒前
脑洞疼应助读书的时候采纳,获得10
13秒前
adaadlj;a发布了新的文献求助10
14秒前
15秒前
共享精神应助一小部分我采纳,获得10
15秒前
FashionBoy应助科研通管家采纳,获得10
15秒前
xmn应助科研通管家采纳,获得10
15秒前
龅牙苏应助科研通管家采纳,获得10
15秒前
16秒前
Ava应助科研通管家采纳,获得10
16秒前
酷波er应助科研通管家采纳,获得10
16秒前
思源应助科研通管家采纳,获得10
16秒前
龅牙苏应助科研通管家采纳,获得10
16秒前
Lucas应助科研通管家采纳,获得10
16秒前
星辰大海应助科研通管家采纳,获得10
16秒前
dong应助科研通管家采纳,获得10
16秒前
传奇3应助科研通管家采纳,获得10
16秒前
大模型应助科研通管家采纳,获得10
16秒前
大个应助科研通管家采纳,获得10
16秒前
rtchou应助科研通管家采纳,获得10
16秒前
17秒前
高分求助中
【请各位用户详细阅读此贴后再求助】科研通的精品贴汇总(请勿应助) 10000
International Code of Nomenclature for algae, fungi, and plants (Madrid Code) (Regnum Vegetabile) 1000
Robot-supported joining of reinforcement textiles with one-sided sewing heads 530
Apiaceae Himalayenses. 2 500
Beyond The Sentence: Discourse And Sentential Form 500
Maritime Applications of Prolonged Casualty Care: Drowning and Hypothermia on an Amphibious Warship 500
Tasteful Old Age:The Identity of the Aged Middle-Class, Nursing Home Tours, and Marketized Eldercare in China 350
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4073176
求助须知:如何正确求助?哪些是违规求助? 3612021
关于积分的说明 11467619
捐赠科研通 3331379
什么是DOI,文献DOI怎么找? 1831231
邀请新用户注册赠送积分活动 901252
科研通“疑难数据库(出版商)”最低求助积分说明 820204