fa بررسی طیف ژن‌ها و جهش‌های عامل ناشنوایی غیرسندرومی در ایران: یک مطالعه مروری medicine, paraclinic medicine, paraclinic مروري Review <div style="text-align: justify;"><span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><strong><span lang="AR-SA" style="font-size:9.0pt"><span b="" style="font-family:" zar="">سابقه و هدف:</span></span></strong><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"><strong> </strong>نا‌شنوایی</span></span> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">به‌عنوان شایع‌ترین اختلال حسّی - عصبی، شناخته می‌شود. </span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">فراوانی اختلال شنوایی</span></span> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">در جهان، یک از هر 500 نوزاد متولدشده می‌باشد. در ایران، به‌‌دلیل رواج </span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">ازدواج‌های خویشاوندی، این میزان </span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">دو تا سه برابر بیشتر برآورد می‌شود. </span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">ناهمگنی </span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">بالای</span></span> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">لوکوسی و آللی</span></span> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">نا‌شنوایی </span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">توارثی در جمعیت‌های مختلف ایران و پراکندگی مطالعات انجام‌شده</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">،</span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> از دلایل اصلی انجام مطالعه مروری حاضر</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> می‌باشد</span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">.</span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><span lang="AR-SA" style="font-size:9.0pt"><strong><span b="" style="font-family:" zar="">مواد و روش‌ها:</span></strong><span b="" lotus="" style="font-family:"><strong> </strong>مقالات منتشرشده در پایگاه‌های </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">Google</span></span> <span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">scholar</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">Scopus</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">،</span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">Web of Science</span></span> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">&nbsp;و </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">PubMed</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> از سال ۱۹۸۹ تا 2022 براساس کلیدواژه‌های </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">Iran</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">non-syndromic</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">hearing</span></span> <span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">loss</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">gene</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">mutation</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> و </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">pathogenic</span></span> <span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">variants</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> جمع‌آوری و بررسی شد. </span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><strong><span lang="AR-SA" style="font-size:9.0pt"><span b="" style="font-family:" zar="">نتایج:</span></span></strong> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">تاکنون، بیش از ۱۳۰ ژن عامل ناشنوایی غیر‌سندرومی (</span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">NSHL</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">)</span></span> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">در جهان شناخته شده است. از این میان، 57 ژن مشتمل بر </span></span><span lang="AR-SA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">430 جهش بیماری‌زا و شبه بیماری‌زا</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> در مبتلایان به ناشنوایی غیرسندرومی در ایران گزارش شده ‌است. بر مبنای مطالعات انجام‌شده، ژن‌های</span></span><i><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">GJB2</span></span></i> <span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><i><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">SLC24A4</span></span></i><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><i><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">MYO15A</span></span></i><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><i><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">MYO7A</span></span></i><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">، </span></span><i><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">CDH23</span></span></i><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> و </span></span><i><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">TMC1</span></span></i><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> در ایران به‌ترتیب از رایج‌ترین عوامل </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">NSHL</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> هستند که توزیع آن‌ها در جمعیت‌های مختلف، متفاوت می‌باشد. همچنین، جهش بدمعنی، رایج‌ترین جهش گزارش شده است.</span></span><span lang="FA" style="font-size:9.0pt"><span style="font-family:"B Lotus""></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><strong><span lang="AR-SA" style="font-size:9.0pt"><span b="" style="font-family:" zar="">نتیجه‌گیری:</span></span></strong><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> این مطالعه ضمن تأیید ناهمگنی ژنتیکی بالای </span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">NSHL</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:"> در ایران، بر اهمیت و تأثیر انقلابی تکنیک‌های توالی‌یابی نسل جدید (</span></span><span dir="LTR" style="font-size:9.0pt"><span new="" roman="" style="font-family:" times="">NGS</span></span><span lang="FA" style="font-size:9.0pt"><span b="" lotus="" style="font-family:">) در تشخیص علت ژنتیکی نقص شنوایی در جمعیت‌های مختلف ایران تأکید می‌کند. چنین رویکردی می‌تواند نقش قابل‌توجهی در انجام مشاوره ژنتیک، تشخیص قبل از تولد و مدیریت کلینیکی اختلال شنوایی در خانواده‌های مبتلا ایفا نماید.</span></span><span lang="FA" style="font-size:9.0pt"><span style="font-family:"B Lotus""></span></span></span></span></span></span></span></div> <div style="text-align: justify;"><span style="font-family:Times New Roman;"><span style="color:#000000;"><span style="font-size:12pt"><span style="unicode-bidi:embed"><span new="" roman="" times=""><b>Background</b>: Hearing loss (HL) is known as the most common sensorineural disorder. The frequency of hearing impairment is one in every 500 infants born, worldwide. In Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. The high locus and allelic heterogeneity of hereditary hearing loss in different populations of Iran and distribution of studies are the main reasons for conducting this review.</span></span></span><br> <span style="font-size:12pt"><span style="unicode-bidi:embed"><span new="" roman="" times=""><b>Materials and Methods: </b>Published articles were collected and reviewed in Google scholar, Scopus, Web of Science and PubMed databases from 1989 to 2022 based on the keywords of Iran, non-syndromic, hearing loss, gene, mutation and pathogenic variants.</span></span></span><br> <span style="font-size:12pt"><span style="unicode-bidi:embed"><span new="" roman="" times=""><b>Results</b>: So far, more than 130 genes causing non-syndromic hearing loss (NSHL) have been known in the world, of which 57 genes including 430 pathogenic and likely pathogenic mutations have been reported in NSHL patients in Iran. Based on the literature, <i>GJB2</i>, <i>SLC26A4</i>, <i>MYO15A</i>, <i>MYO7A</i>, <i>CDH23</i>, and <i>TMC1</i> genes are among the most common causes of NSHL in Iran, respectively, and their distribution is different in various populations. In addition, missense mutation is the most common reported mutation.</span></span></span><br> <span style="font-size:12pt"><span style="unicode-bidi:embed"><span new="" roman="" times=""><b>Conclusion</b>: This study while confirming the high genetic heterogeneity of NSHL in Iran, emphasizes the importance and revolutionary impact of next generation sequencing (NGS) techniques in diagnosing the genetic cause of hearing impairment in different populations of Iran. Such an approach can play a significant role in genetic counseling, prenatal diagnosis and clinical management of hearing impairment in affected families.</span></span></span></span></span></div> نقص شنوایی, ناشنوایی حسّی - عصبی, ژنتیک ناشنوایی, ناهمگنی ژنتیکی, ناشنوایی غیرسندرومی Hearing impairment, Sensorineural hearing loss, Genetics of deafness, Genetic heterogeneity, Nonsyndromic hearing loss 722 738 http://feyz.kaums.ac.ir/browse.php?a_code=A-10-4285-1&slc_lang=fa&sid=1 Mobarakeh Ajam-Hossieni مبارکه عجم حسینی tkd.mobi94@gmail.com 2900319475328460040054 2900319475328460040054 No Department of Cellular and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Karaj, I.R. Iran. گروه زیست‌شناسی سلولی و مولکولی، دانشکده علوم زیستی، دانشگاه خوارزمی، کرج، ایران Farshid Parvini فرشید پروینی f.parvini@semnan.ac.ir 2900319475328460040055 2900319475328460040055 Yes Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, I.R. Iran. گروه زیست‌شناسی، پردیس علوم پایه، دانشگاه سمنان، سمنان، ایران Abdolhamid Angaji سید عبدالحمید انگجی Angaji@khu.ac.ir 2900319475328460040056 2900319475328460040056 No Department of Cellular and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Karaj, I.R. Iran. گروه زیست‌شناسی سلولی و مولکولی، دانشکده علوم زیستی، دانشگاه خوارزمی، کرج، ایران