Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
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DOI：
10.3390/life10110258
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发表时间：
2020-10-28
期刊：
影响因子：
--
通讯作者：
Wonkam A
中科院分区：
文献类型：
--
作者：
Adadey SM;Wonkam-Tingang E;Twumasi Aboagye E;Nayo-Gyan DW;Boatemaa Ansong M;Quaye O;Awandare GA;Wonkam A
连接蛋白的突变是许多人群中听力障碍（HI）的最常见原因。我们的目的是审查与HI相关的连接蛋白基因中致病性和可能致病性（PLP）变异的全球负担。我们根据1997年至2020年出版物的目标纳入/排除标准对文献进行了系统综述。使用的数据库包括PubMed、Scopus、Africa-Wide Information和Web of Science。该方案已在PROSPERO（国际系统性综述前瞻性登记系统）上注册，注册号为“CRD 42020169697”。使用Microsoft Excel和SPSS第25版（IBM，阿尔蒙克，纽约，美国）分析提取的数据。共检索到571项独立研究，并考虑进行数据提取，其中大多数研究（47.8%（n = 289））在亚洲进行。靶向测序是研究连接蛋白基因突变最常用的技术。我们鉴定了7个与HI相关的连接蛋白基因，并且GJB 2（520/571出版物）是这7个基因中研究最多的。排除GJB 2、GJB 6和GJA 1中的PLP，其他连接蛋白基因变体（因此GJB 3、GJB 4、GJC 3和GJC 1变体）与HI具有冲突的关联。双等位基因GJB 2 PLP变体是全球不同人群中与非综合征性听力障碍（NSHI）相关的最常见和最广泛的变体，但在大多数非洲人群中不存在。在特定人群中占优势的最常见的GJB 2等位基因包括：欧洲人、北非人、巴西人和美国人中的p.Gly12ValfsTer2;亚洲人中的p.V37I和p.L79Cfs;印度人中的p.W24X;美国人中的p.L56Rfs;以及来自加纳的非洲人或具有假定的加纳血统的创始人突变p.R143W。目前的综述表明，只有GJB 2和GJB 3是公认的和验证的HI基因。这些发现要求在许多人群中对其他连接蛋白基因进行广泛调查，以阐明它们对HI的贡献，从而在全球范围内改善基因-疾病配对治疗。
Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systematic review of the literature based on targeted inclusion/exclusion criteria of publications from 1997 to 2020. The databases used were PubMed, Scopus, Africa-Wide Information, and Web of Science. The protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020169697”. The data extracted were analyzed using Microsoft Excel and SPSS version 25 (IBM, Armonk, New York, United States). A total of 571 independent studies were retrieved and considered for data extraction with the majority of studies (47.8% (n = 289)) done in Asia. Targeted sequencing was found to be the most common technique used in investigating connexin gene mutations. We identified seven connexin genes that were associated with HI, and GJB2 (520/571 publications) was the most studied among the seven. Excluding PLP in GJB2, GJB6, and GJA1 the other connexin gene variants (thus GJB3, GJB4, GJC3, and GJC1 variants) had conflicting association with HI. Biallelic GJB2 PLP variants were the most common and widespread variants associated with non-syndromic hearing impairment (NSHI) in different global populations but absent in most African populations. The most common GJB2 alleles found to be predominant in specific populations include; p.Gly12ValfsTer2 in Europeans, North Africans, Brazilians, and Americans; p.V37I and p.L79Cfs in Asians; p.W24X in Indians; p.L56Rfs in Americans; and the founder mutation p.R143W in Africans from Ghana, or with putative Ghanaian ancestry. The present review suggests that only GJB2 and GJB3 are recognized and validated HI genes. The findings call for an extensive investigation of the other connexin genes in many populations to elucidate their contributions to HI, in order to improve gene-disease pair curations, globally.
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影响因子：
3.7
作者：
Barashkov NA;Pshennikova VG;Posukh OL;Teryutin FM;Solovyev AV;Klarov LA;Romanov GP;Gotovtsev NN;Kozhevnikov AA;Kirillina EV;Sidorova OG;Vasilyevа LM;Fedotova EE;Morozov IV;Bondar AA;Solovyevа NA;Kononova SK;Rafailov AM;Sazonov NN;Alekseev AN;Tomsky MI;Dzhemileva LU;Khusnutdinova EK;Fedorova SA
通讯作者：
Fedorova SA
影响因子：
3.2
作者：
Adadey, Samuel M.;Esoh, Kevin K.;Wonkam, Ambroise
通讯作者：
Wonkam, Ambroise
影响因子：
3.5
作者：
Bliznetz EA;Lalayants MR;Markova TG;Balanovsky OP;Balanovska EV;Skhalyakho RA;Pocheshkhova EA;Nikitina NV;Voronin SV;Kudryashova EK;Glotov OS;Polyakov AV
通讯作者：
Polyakov AV
影响因子：
14.9
作者：
Bult CJ;Blake JA;Smith CL;Kadin JA;Richardson JE;Mouse Genome Database Group
通讯作者：
Mouse Genome Database Group
影响因子：
1.9
作者：
Bakhchane, Amina;Bousfiha, Amale;Barakat, Abdelhamid
通讯作者：
Barakat, Abdelhamid