A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family
Identifieur interne : 007374 ( Ncbi/Checkpoint ); précédent : 007373; suivant : 007375A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family
Auteurs : X. Huang [République populaire de Chine] ; N. Wang [République populaire de Chine] ; X. Xiao [République populaire de Chine] ; S. Li [République populaire de Chine] ; Q. Zhang [République populaire de Chine]Source :
- Eye [ 0950-222X ] ; 2015.
Abstract
To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea.
Genomic DNA was prepared from leukocytes of 15 individuals from three generations of a Chinese family, including seven individuals with OAG and microcornea, one with microcornea alone, and seven healthy individuals. Whole exome sequencing was performed on genomic DNA of the proband. Candidate variants were obtained through multiple steps of bioinformatics analysis and validated by Sanger sequencing and segregation analysis.
Exome sequencing detected a candidate variant in
A novel truncation mutation in
Url:
DOI: 10.1038/eye.2015.74
PubMed: 25976645
PubMed Central: 4506350
Affiliations:
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PMC:4506350Le document en format XML
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associated with open angle glaucoma and microcornea in a large Chinese family</title>
<author><name sortKey="Huang, X" sort="Huang, X" uniqKey="Huang X" first="X" last="Huang">X. Huang</name>
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, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
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<author><name sortKey="Wang, N" sort="Wang, N" uniqKey="Wang N" first="N" last="Wang">N. Wang</name>
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, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
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<author><name sortKey="Xiao, X" sort="Xiao, X" uniqKey="Xiao X" first="X" last="Xiao">X. Xiao</name>
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<country xml:lang="fr">République populaire de Chine</country>
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<author><name sortKey="Li, S" sort="Li, S" uniqKey="Li S" first="S" last="Li">S. Li</name>
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<author><name sortKey="Zhang, Q" sort="Zhang, Q" uniqKey="Zhang Q" first="Q" last="Zhang">Q. Zhang</name>
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, Guangzhou,<country>China</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel truncation mutation in <italic>GJA1</italic>
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<author><name sortKey="Huang, X" sort="Huang, X" uniqKey="Huang X" first="X" last="Huang">X. Huang</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University</institution>
, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Wang, N" sort="Wang, N" uniqKey="Wang N" first="N" last="Wang">N. Wang</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University</institution>
, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Xiao, X" sort="Xiao, X" uniqKey="Xiao X" first="X" last="Xiao">X. Xiao</name>
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, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
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<author><name sortKey="Li, S" sort="Li, S" uniqKey="Li S" first="S" last="Li">S. Li</name>
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, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Zhang, Q" sort="Zhang, Q" uniqKey="Zhang Q" first="Q" last="Zhang">Q. Zhang</name>
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, Guangzhou,<country>China</country>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<series><title level="j">Eye</title>
<idno type="ISSN">0950-222X</idno>
<idno type="eISSN">1476-5454</idno>
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<front><div type="abstract" xml:lang="en"><sec><title>Purpose</title>
<p>To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea.</p>
</sec>
<sec sec-type="methods"><title>Methods</title>
<p>Genomic DNA was prepared from leukocytes of 15 individuals from three generations of a Chinese family, including seven individuals with OAG and microcornea, one with microcornea alone, and seven healthy individuals. Whole exome sequencing was performed on genomic DNA of the proband. Candidate variants were obtained through multiple steps of bioinformatics analysis and validated by Sanger sequencing and segregation analysis.</p>
</sec>
<sec sec-type="results"><title>Results</title>
<p>Exome sequencing detected a candidate variant in <italic>GJA1,</italic>
a novel truncation mutation (c.791_792delAA, p.K264Ifs*43). This mutation was present in all seven individuals with OAG and microcornea and the individual with microcornea alone, but not in the seven unaffected relatives in the family. It was not present in 1394 alleles from 505 unrelated controls without glaucoma and 192 normal controls. Extraocular signs were not observed in seven out of the eight individuals; only one was affected with dental enamel hypoplasia and syndactyly.</p>
</sec>
<sec sec-type="conclusions"><title>Conclusions</title>
<p>A novel truncation mutation in <italic>GJA1</italic>
is associated with OAG and microcornea in a Chinese family. This suggests that <italic>GJA1</italic>
should be included as a candidate gene for glaucoma.</p>
</sec>
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<name sortKey="Xiao, X" sort="Xiao, X" uniqKey="Xiao X" first="X" last="Xiao">X. Xiao</name>
<name sortKey="Zhang, Q" sort="Zhang, Q" uniqKey="Zhang Q" first="Q" last="Zhang">Q. Zhang</name>
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