Abstract：
OBJECTIVE OF THE STUDY:Inborn lens opacity is the most frequent cause of childhood blindness. In this study, we aimed to define the presumed genetic cause of a congenital cataract present in a Mauritanian family over the last nine generations. METHODS:A family history of the disease and eye examination were carried out for the family members. Next-generation sequencing using a panel of 116 cataract underlying genes was selectively conducted on the proband's DNA. Nucleotide and amino acid changes and their impact on the phenotype were evaluated using various data analyzing software. RESULTS:Congenital nuclear cataract, with autosomal dominant mode, was observed in the family. All patients had consequences on their vision in the first 2 years of life. Genetic screening revealed a new mutation c.166A>C (p.Thr56Pro) in GJA8, encoding the Cx50 α-connexin protein. This mutation co-segregated in all patients and was not observed in the unaffected family members and controls. The predicted secondary structure impacted by p.Thr56Pro revealed a localized disruption, in the first extra membrane loop of the wild-type sheet, which is replaced in the mutant protein by a turn then a coil. This conformational change was functionally predicted as probably damaging. CONCLUSION:A new mutation (c.166A>C) in GJA8 underlying a nuclear congenital cataract was identified in this study. Its segregation with the phenotype might be useful as a predicting marker of the disease.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Hadrami M,Bonnet C,Veten F,Zeitz C,Condroyer C,Wang P,Biya M,Sidi Ahmed MA,Zhang Q,Cheikh S,Audo I,Petit C,Houmeida Adoi
10.1177/1120672118804757subject
Has Abstractpub_date
2019-11-01 00:00:00pages
621-628issue
6eissn
1120-6721issn
1724-6016journal_volume
29pub_type
杂志文章abstract：PURPOSE:Transforming growth factor-beta1 (TGF-beta1) is thought to play a pivotal role in the regulation of the wound healing process after glaucoma filtering surgery. The aim of the present study was to investigate whether platelet-derived growth factor isoforms (PDGF-AA, PDGF-BB), basic fibroblast growth factor (bFGF...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210001000203
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abstract：PURPOSE:To report on a case of episcleral hemangioma in a child. METHODS:A 3-year-old boy presented with a 4-week history of limbal mass in the left eye and had an excision of that mass. RESULTS:There was an 8 x 7 mm oval lesion, 3-4 mm below the inferior limbus. It was reddish, sharply elevated with smooth surface, ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210901900220
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abstract：:Strabismus fixus is a rare condition and usually is of convergent type in which one or both eyes are anchored in a position of extreme adduction. Convergent type strabismus fixus is considered to be a congenital disorder and a part of congenital extraocular muscle fibrosis syndrome. Villasecca and Martinez described a...
journal_title：European journal of ophthalmology
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doi：10.1177/112067210301300214
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abstract：PURPOSE:To describe and compare long-term (> or = 36 months) effects of patients with 86 primary pterygia treated with bare sclera extirpation (BSE) followed by Beta-RT or by sham irradiation. METHODS:Prospective, multicenter, randomized, double-blind study. After BSE of their pterygium, patients were randomized to ei...
journal_title：European journal of ophthalmology
pub_type： 杂志文章,多中心研究,随机对照试验
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更新日期：2008-05-01 00:00:00
abstract：PURPOSE:To investigate the mean values of intraocular pressure (IOP) measured with noncontact tonometer (NCT) and evaluate the factors that may affect IOP. METHODS:A total of 850 subjects who were admitted to our clinic between March 2005 and February 2006 were recruited for the study. Subjects having blepharitis, con...
journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
pub_type： 杂志文章
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journal_title：European journal of ophthalmology
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更新日期：2013-01-21 00:00:00
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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更新日期：2004-05-01 00:00:00
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
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更新日期：1996-07-01 00:00:00
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journal_title：European journal of ophthalmology
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journal_title：European journal of ophthalmology
pub_type： 杂志文章
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