Abstract:
BACKGROUND:Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome. Genetic abnormalities have been shown to account for 80% of cases in bilateral anophthalmia or severe microphthalmia, where 25-30% were attributed to chromosomal defects in this subset of MAC patients. To date, chromosome 9 short arm (9p) abnormalities have not been shown to associate with development of MAC. PURPOSE:To report a case of MAC spectrum disorder that is related to 9p deletion and duplication. MATERIALS AND METHODS:A child who exhibited signs of MAC was evaluated retrospectively. Genetic analysis with comparative genomic hybridization (CGH) and a family pedigree was obtained from the proband. RESULTS:A 3-year-old girl with a history of an atrial septal defect, a horseshoe kidney and global developmental delay was presented. Ophthalmic examination revealed bilateral iris coloboma, bilateral choroidal-retinal coloboma, and left-sided microphthalmia. Subsequent oligonucleotide-based array CGH revealed two different sites of duplication and deletion on 9p (9p24.3 (209020_1143516)x1, 9p24.3p24.1 (1158662_6395264)x3). CONCLUSION:We present the first case of MAC spectrum disorder that is related to 9p deletion and duplication. The link between the associated genetic abnormality and the phenotypic features is yet to be established. Duplication of JAK2 gene, which is within the same region of abnormalities, may have potentiated the development of MAC spectrum disease.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Leung KCP,Ko TCSdoi
10.1080/13816810.2020.1776338subject
Has Abstractpub_date
2020-08-01 00:00:00pages
373-376issue
4eissn
1381-6810issn
1744-5094journal_volume
41pub_type
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802452168
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1776335
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.599356
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.3.149.2186
更新日期:1998-09-01 00:00:00
abstract::Purpose: To report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were ide...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1855664
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doi:10.3109/13816810.2011.592176
更新日期:2011-11-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1130154
更新日期:2016-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.1080/13816810.2019.1675178
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2012.762932
更新日期:2013-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.716489
更新日期:2012-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.20.4.225.2269
更新日期:1999-12-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2019.1622022
更新日期:2019-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810600677966
更新日期:2006-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1242018
更新日期:2017-07-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666414
更新日期:2019-08-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.523038
更新日期:2010-12-01 00:00:00
abstract::Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819409057843
更新日期:1994-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.1080/13816810701503707
更新日期:2007-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.921314
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810500229025
更新日期:2005-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.886272
更新日期:2015-01-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.736590
更新日期:2013-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.895016
更新日期:2016-01-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1210648
更新日期:2017-05-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1768556
更新日期:2020-08-01 00:00:00
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journal_title:Ophthalmic genetics
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pub_type: 杂志文章
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更新日期:2020-12-04 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.907920
更新日期:2016-01-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2019-12-01 00:00:00