<?xml version="1.0" encoding="utf-8"?>
<journal>
<title>Iranian Biomedical Journal</title>
<title_fa>مجله بیومدیکال ایران</title_fa>
<short_title>IBJ</short_title>
<subject>Basic Sciences</subject>
<web_url>http://ibj.pasteur.ac.ir</web_url>
<journal_hbi_system_id>1</journal_hbi_system_id>
<journal_hbi_system_user>admin</journal_hbi_system_user>
<journal_id_issn>1028-852X</journal_id_issn>
<journal_id_issn_online>2008-823X</journal_id_issn_online>
<journal_id_pii>-</journal_id_pii>
<journal_id_doi>10.61882/ibj</journal_id_doi>
<journal_id_iranmedex></journal_id_iranmedex>
<journal_id_magiran></journal_id_magiran>
<journal_id_sid>-</journal_id_sid>
<journal_id_nlai>8888</journal_id_nlai>
<journal_id_science>-</journal_id_science>
<language>en</language>
<pubdate>
	<type>jalali</type>
	<year>1400</year>
	<month>8</month>
	<day>1</day>
</pubdate>
<pubdate>
	<type>gregorian</type>
	<year>2021</year>
	<month>11</month>
	<day>1</day>
</pubdate>
<volume>25</volume>
<number>6</number>
<publish_type>online</publish_type>
<publish_edition>1</publish_edition>
<article_type>fulltext</article_type>
<articleset>
	<article>


	<language>en</language>
	<article_id_doi></article_id_doi>
	<title_fa></title_fa>
	<title>Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family</title>
	<subject_fa>Molecular Genetics &amp; Genomics</subject_fa>
	<subject>Molecular Genetics &amp; Genomics</subject>
	<content_type_fa>مقاله کامل</content_type_fa>
	<content_type>Full Length/Original Article</content_type>
	<abstract_fa></abstract_fa>
	<abstract>&lt;strong&gt;Background:&lt;/strong&gt; Premature ovarian failure is a heterogeneous disorder, leading to early menopause. Several genes have been identified as the cause of non-syndromic premature ovarian failure (POF)&lt;span dir=&quot;RTL&quot;&gt;.&lt;/span&gt; Our aim was to explore the genetic defects in Iranian patients with POF. &lt;strong&gt;Methods: &lt;/strong&gt;We studied a family with three females exhibiting non-syndromic POF. WES was performed for one of the affected individuals after ruling out the presence of CGG repeat expansion at fragile X mental retardation 1 gene in the family. Sanger sequencing was used to confirm the candidate sequence variants in the proband, and screening of the detected mutation was performed for the other affected and unaffected members of the family. &lt;strong&gt;Results:&lt;/strong&gt; A homozygous frameshift mutation, c.349delC, was identified in ficolin-3 (&lt;em&gt;FCN3&lt;/em&gt;) gene in the proband and two other patients. The parents and two healthy brothers were heterozygous for the mutation, and an unaffected sister was homozygous for wild type. &lt;strong&gt;Conclusion: &lt;/strong&gt;This is the first report of a mutation in &lt;em&gt;FCN3&lt;/em&gt; gene in a family with POF. Our findings can lead to the enhancement of genetic databases of patients with POF, specifically for families with high-risk background.</abstract>
	<keyword_fa></keyword_fa>
	<keyword>Ficolin-3, Premature ovarian failure, Whole exome sequencing</keyword>
	<start_page>441</start_page>
	<end_page>446</end_page>
	<web_url>http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-3432-2&amp;slc_lang=en&amp;sid=1</web_url>


<author_list>
	<author>
	<first_name>Soophia</first_name>
	<middle_name></middle_name>
	<last_name>Mehrjooy</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>spi.gmehr@yahoo.com</email>
	<code></code>
	<orcid>0000-0001-6186-4185</orcid>
	<coreauthor>No</coreauthor>
	<affiliation>Cellular and Molecular Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


	<author>
	<first_name>Roshan</first_name>
	<middle_name></middle_name>
	<last_name>Nikbakht</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>nikbakht-r@ajums.ac.ir</email>
	<code></code>
	<orcid>0000-0003-2347-8560</orcid>
	<coreauthor>No</coreauthor>
	<affiliation>Department of Gynecology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


	<author>
	<first_name>Javad</first_name>
	<middle_name></middle_name>
	<last_name>Mohammadi asl</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>mohammadi-asl@ajums.ac.ir</email>
	<code></code>
	<orcid>0000-0002-1750-0541</orcid>
	<coreauthor>No</coreauthor>
	<affiliation>Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.4Noor medical genetic Laboratory, Khuzestan Ahvaz, Iran</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


	<author>
	<first_name>Ata</first_name>
	<middle_name></middle_name>
	<last_name>Ghadiri</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>ghadiri-a@ajums.ac.ir</email>
	<code></code>
	<orcid>0000-0001-7431-7439</orcid>
	<coreauthor>No</coreauthor>
	<affiliation>Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


	<author>
	<first_name>Pegah</first_name>
	<middle_name></middle_name>
	<last_name>Ghandil</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>ghandil-p@ajums.ac.ir</email>
	<code></code>
	<orcid>0000-0001-7828-6465</orcid>
	<coreauthor>Yes
</coreauthor>
	<affiliation>Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


</author_list>


	</article>
</articleset>
</journal>
