Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
Identifieur interne : 001C93 ( Main/Exploration ); précédent : 001C92; suivant : 001C94Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
Auteurs : Hanan E. Shamseldin [Arabie saoudite] ; Maha Tulbah [Arabie saoudite] ; Wesam Kurdi [Arabie saoudite] ; Maha Nemer [Arabie saoudite] ; Nada Alsahan [Arabie saoudite] ; Elham Al Mardawi [Arabie saoudite] ; Ola Khalifa [Arabie saoudite, Égypte] ; Amal Hashem [Arabie saoudite] ; Ahmed Kurdi [Arabie saoudite] ; Zainab Babay [Arabie saoudite] ; Dalal K. Bubshait [Arabie saoudite] ; Niema Ibrahim [Arabie saoudite] ; Firdous Abdulwahab [Arabie saoudite] ; Zuhair Rahbeeni [Arabie saoudite] ; Mais Hashem [Arabie saoudite] ; Fowzan S. Alkuraya [Arabie saoudite]Source :
- Genome Biology [ 1465-6906 ] ; 2015.
Abstract
Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes.
We have studied 24 eligible families using autozygosity mapping and whole-exome sequencing. In addition to revealing mutations in genes previously linked to embryonic lethality in severe cases, our approach revealed seven novel candidate genes (
Our study represents an important step towards the systematic analysis of “embryonic lethal genes” in humans.
The online version of this article (doi:10.1186/s13059-015-0681-6) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1186/s13059-015-0681-6
PubMed: 26036949
PubMed Central: 4491988
Affiliations:
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<author><name sortKey="Ibrahim, Niema" sort="Ibrahim, Niema" uniqKey="Ibrahim N" first="Niema" last="Ibrahim">Niema Ibrahim</name>
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<author><name sortKey="Abdulwahab, Firdous" sort="Abdulwahab, Firdous" uniqKey="Abdulwahab F" first="Firdous" last="Abdulwahab">Firdous Abdulwahab</name>
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<author><name sortKey="Rahbeeni, Zuhair" sort="Rahbeeni, Zuhair" uniqKey="Rahbeeni Z" first="Zuhair" last="Rahbeeni">Zuhair Rahbeeni</name>
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<author><name sortKey="Hashem, Mais" sort="Hashem, Mais" uniqKey="Hashem M" first="Mais" last="Hashem">Mais Hashem</name>
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<author><name sortKey="Alkuraya, Fowzan S" sort="Alkuraya, Fowzan S" uniqKey="Alkuraya F" first="Fowzan S." last="Alkuraya">Fowzan S. Alkuraya</name>
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<country xml:lang="fr">Arabie saoudite</country>
<wicri:regionArea>Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh</wicri:regionArea>
<wicri:noRegion>Riyadh</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Genome Biology</title>
<idno type="ISSN">1465-6906</idno>
<idno type="eISSN">1465-6914</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes.</p>
</sec>
<sec><title>Results</title>
<p>We have studied 24 eligible families using autozygosity mapping and whole-exome sequencing. In addition to revealing mutations in genes previously linked to embryonic lethality in severe cases, our approach revealed seven novel candidate genes (<italic>THSD1</italic>
, <italic>PIGC</italic>
, <italic>UBN1</italic>
, <italic>MYOM1</italic>
, <italic>DNAH14</italic>
, <italic>GALNT14</italic>
, and <italic>FZD6</italic>
). A founder mutation in one of these genes, <italic>THSD1</italic>
, which has been linked to vascular permeability, accounted for embryonic lethality in three of the study families. Unlike the other six candidate genes, we were able to identify a second mutation in <italic>THSD1</italic>
in a family with a less severe phenotype consisting of hydrops fetalis and persistent postnatal edema, which provides further support for the proposed link between this gene and embryonic lethality.</p>
</sec>
<sec><title>Conclusions</title>
<p>Our study represents an important step towards the systematic analysis of “embryonic lethal genes” in humans.</p>
</sec>
<sec><title>Electronic supplementary material</title>
<p>The online version of this article (doi:10.1186/s13059-015-0681-6) contains supplementary material, which is available to authorized users.</p>
</sec>
</div>
</front>
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</TEI>
<affiliations><list><country><li>Arabie saoudite</li>
<li>Égypte</li>
</country>
</list>
<tree><country name="Arabie saoudite"><noRegion><name sortKey="Shamseldin, Hanan E" sort="Shamseldin, Hanan E" uniqKey="Shamseldin H" first="Hanan E." last="Shamseldin">Hanan E. Shamseldin</name>
</noRegion>
<name sortKey="Abdulwahab, Firdous" sort="Abdulwahab, Firdous" uniqKey="Abdulwahab F" first="Firdous" last="Abdulwahab">Firdous Abdulwahab</name>
<name sortKey="Al Mardawi, Elham" sort="Al Mardawi, Elham" uniqKey="Al Mardawi E" first="Elham" last="Al Mardawi">Elham Al Mardawi</name>
<name sortKey="Alkuraya, Fowzan S" sort="Alkuraya, Fowzan S" uniqKey="Alkuraya F" first="Fowzan S." last="Alkuraya">Fowzan S. Alkuraya</name>
<name sortKey="Alkuraya, Fowzan S" sort="Alkuraya, Fowzan S" uniqKey="Alkuraya F" first="Fowzan S." last="Alkuraya">Fowzan S. Alkuraya</name>
<name sortKey="Alsahan, Nada" sort="Alsahan, Nada" uniqKey="Alsahan N" first="Nada" last="Alsahan">Nada Alsahan</name>
<name sortKey="Babay, Zainab" sort="Babay, Zainab" uniqKey="Babay Z" first="Zainab" last="Babay">Zainab Babay</name>
<name sortKey="Bubshait, Dalal K" sort="Bubshait, Dalal K" uniqKey="Bubshait D" first="Dalal K." last="Bubshait">Dalal K. Bubshait</name>
<name sortKey="Bubshait, Dalal K" sort="Bubshait, Dalal K" uniqKey="Bubshait D" first="Dalal K." last="Bubshait">Dalal K. Bubshait</name>
<name sortKey="Hashem, Amal" sort="Hashem, Amal" uniqKey="Hashem A" first="Amal" last="Hashem">Amal Hashem</name>
<name sortKey="Hashem, Mais" sort="Hashem, Mais" uniqKey="Hashem M" first="Mais" last="Hashem">Mais Hashem</name>
<name sortKey="Ibrahim, Niema" sort="Ibrahim, Niema" uniqKey="Ibrahim N" first="Niema" last="Ibrahim">Niema Ibrahim</name>
<name sortKey="Khalifa, Ola" sort="Khalifa, Ola" uniqKey="Khalifa O" first="Ola" last="Khalifa">Ola Khalifa</name>
<name sortKey="Kurdi, Ahmed" sort="Kurdi, Ahmed" uniqKey="Kurdi A" first="Ahmed" last="Kurdi">Ahmed Kurdi</name>
<name sortKey="Kurdi, Wesam" sort="Kurdi, Wesam" uniqKey="Kurdi W" first="Wesam" last="Kurdi">Wesam Kurdi</name>
<name sortKey="Nemer, Maha" sort="Nemer, Maha" uniqKey="Nemer M" first="Maha" last="Nemer">Maha Nemer</name>
<name sortKey="Rahbeeni, Zuhair" sort="Rahbeeni, Zuhair" uniqKey="Rahbeeni Z" first="Zuhair" last="Rahbeeni">Zuhair Rahbeeni</name>
<name sortKey="Tulbah, Maha" sort="Tulbah, Maha" uniqKey="Tulbah M" first="Maha" last="Tulbah">Maha Tulbah</name>
</country>
<country name="Égypte"><noRegion><name sortKey="Khalifa, Ola" sort="Khalifa, Ola" uniqKey="Khalifa O" first="Ola" last="Khalifa">Ola Khalifa</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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