LymphedemaV1, Ncbi, Checkpoint, bibRecord, 007374

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 : 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

Affiliations:

République populaire de Chine

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PMC:4506350

Le document en format XML

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<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>
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<p>A novel truncation mutation in <italic>GJA1</italic>
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 should be included as a candidate gene for glaucoma.</p>
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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

Source :

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki