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A novel frameshift mutation in the gene is associated with oculo-facio-cardio-dental syndrome: a case report.

作者信息

Gu Qiu-Mei, He Xue-Fei, Xiao Wen-Zhe, Qu Chao

机构信息

Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.

West China Biobank, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.

出版信息

Int J Ophthalmol. 2025 Feb 18;18(2):370-374. doi: 10.18240/ijo.2025.02.24. eCollection 2025.

DOI:10.18240/ijo.2025.02.24
PMID:39967982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11754032/
Abstract
摘要

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A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.一个新的 BCOR 基因突变与眼面心牙综合征相关：一例报告。
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3
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Gene. 2015 Apr 1;559(2):203-6. doi: 10.1016/j.gene.2015.01.044. Epub 2015 Jan 22.
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[Oculo-facio-cardio-dental syndrome caused by gene mutations: a case report].[基因突变所致眼-面-心-牙综合征：一例报告]
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本文引用的文献

1
Oculo-facio-cardio-dental (OFCD) syndrome: a case report.眼面心牙（OFCD）综合征：病例报告。
J Med Case Rep. 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x.
2
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.BCOR 基因中存在一种罕见的双等位基因镶嵌变体基因型，导致双眼眼前节发育不良和白内障。
Eur J Hum Genet. 2023 Jan;31(1):125-127. doi: 10.1038/s41431-022-01195-7. Epub 2022 Oct 20.
3
A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.一个新的 BCOR 基因突变与眼面心牙综合征相关：一例报告。
BMC Pediatr. 2022 Feb 7;22(1):82. doi: 10.1186/s12887-022-03148-x.
4
OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.条件性突变多梳抑制复合物 1.1（PRC1.1）基因 BCOR 可揭示 OFCD 综合征和胚胎外缺陷。
Dev Biol. 2020 Dec 1;468(1-2):110-132. doi: 10.1016/j.ydbio.2020.06.013. Epub 2020 Jul 18.
5
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.由BCOR突变引起的女性先天性白内障；另外六个家族的报告显示临床变异性和多种遗传机制。
Eur J Med Genet. 2020 Feb;63(2):103658. doi: 10.1016/j.ejmg.2019.04.015. Epub 2019 Apr 30.
6
Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition.眼面心牙综合征：一种罕见病理情况的病例报告。
Int J Environ Res Public Health. 2019 Mar 14;16(6):928. doi: 10.3390/ijerph16060928.
7
New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.伴有新型BCOR突变的眼面心脏牙齿综合征的新影像学发现及神经根肿大：一例报告
Medicine (Baltimore). 2018 Dec;97(49):e13444. doi: 10.1097/MD.0000000000013444.
8
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.扩展 X 连锁 BCOR 小眼症综合征的表型。
Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4.
9
Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.一名患有眼面心脏牙齿（OFCD）综合征且携带新型BCOR致病变异的患者的眼部检查结果
Int Ophthalmol. 2018 Dec;38(6):2677-2682. doi: 10.1007/s10792-017-0754-5. Epub 2017 Oct 22.
10
Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.眼-面-心-牙（OFCD）综合征：首例意大利籍BCOR及伴发OTC基因缺失病例。
Gene. 2015 Apr 1;559(2):203-6. doi: 10.1016/j.gene.2015.01.044. Epub 2015 Jan 22.