LymphedemaV1, Ncbi, Merge, bibRecord, 007374

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family

Identifieur interne : 007374 ( Ncbi/Merge ); précédent : 007373; suivant : 007375

A 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.

RBID : PMC:4506350

Abstract

Purpose

To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea.

Methods

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.

Results

Exome sequencing detected a candidate variant in GJA1, 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.

Conclusions

A novel truncation mutation in GJA1 is associated with OAG and microcornea in a Chinese family. This suggests that GJA1 should be included as a candidate gene for glaucoma.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506350

DOI: 10.1038/eye.2015.74
PubMed: 25976645
PubMed Central: 4506350

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Le document en format XML

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 associated with open angle glaucoma and microcornea in a large Chinese family</title>
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, Guangzhou,<country>China</country>
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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>
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<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>
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  <front><journal-meta><journal-id journal-id-type="nlm-ta">Eye (Lond)</journal-id>
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<article-categories><subj-group subj-group-type="heading"><subject>Laboratory Study</subject>
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<title-group><article-title>A novel truncation mutation in <italic>GJA1</italic>
 associated with open angle glaucoma and microcornea in a large Chinese family</article-title>
<alt-title alt-title-type="running">Association of <italic>GJA1</italic>
 mutation with glaucoma and microcornea</alt-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Huang</surname>
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<xref ref-type="author-notes" rid="note1"><sup>2</sup>
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<contrib contrib-type="author"><name><surname>Wang</surname>
<given-names>N</given-names>
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<xref ref-type="author-notes" rid="note2"><sup>3</sup>
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<aff id="aff1"><label>1</label>
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, Guangzhou,<country>China</country>
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<author-notes><corresp id="caf1"><label>*</label>
<institution>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University</institution>
, 54 Xianlie Road, Guangzhou 510060, <country>China</country>
 Tel: +86 20 87333393; Fax: +86 20 87333271. E-mail: <email>zhangqji@mail.sysu.edu.cn</email>
 or <email>qingjiongzhang@yahoo.com</email>
</corresp>
<fn fn-type="present-address" id="note1"><label>2</label>
<p>These authors contributed equally to this work.</p>
</fn>
<fn fn-type="present-address" id="note2"><label>3</label>
<p>Present address: Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>07</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub"><day>15</day>
<month>05</month>
<year>2015</year>
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<issue>7</issue>
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<lpage>977</lpage>
<history><date date-type="received"><day>17</day>
<month>06</month>
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<month>03</month>
<year>2015</year>
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<permissions><copyright-statement>Copyright © 2015 Royal College of Ophthalmologists</copyright-statement>
<copyright-year>2015</copyright-year>
<copyright-holder>Royal College of Ophthalmologists</copyright-holder>
</permissions>
<abstract><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>
</abstract>
</article-meta>
</front>
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<name sortKey="Zhang, Q" sort="Zhang, Q" uniqKey="Zhang Q" first="Q" last="Zhang">Q. Zhang</name>
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</tree>
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</record>

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A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family

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Abstract

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