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伴有颅缝早闭、颞部多毛症和耳聋的眼-面-心-牙综合征

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

作者信息

O'Byrne James J, Laffan Eoghan, Murray Dylan J, Reardon William

机构信息

Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.

Department of Radiology, Temple Street Children's University Hospital, Dublin, Ireland.

出版信息

Am J Med Genet A. 2017 May;173(5):1374-1377. doi: 10.1002/ajmg.a.38128. Epub 2017 Mar 20.

DOI:10.1002/ajmg.a.38128
PMID:28317252
Abstract

We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface.

摘要

我们报告了一例患有非典型眼-面-心-牙综合征（OFCD）的7个月大女孩的病例。在X染色体上鉴定出BCL6相互作用共抑制因子基因（BCOR）中的一种新的新生致病性突变（c.4540C>T；p.Arg1514*）。该病例扩展了OFCD的表型，因为这是首例出现颅缝早闭、颞部多毛症、眶上沟和中面部发育不全的病例报告。

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Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.伴有颅缝早闭、颞部多毛症和耳聋的眼-面-心-牙综合征
Am J Med Genet A. 2017 May;173(5):1374-1377. doi: 10.1002/ajmg.a.38128. Epub 2017 Mar 20.
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引用本文的文献

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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]
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):202-204. doi: 10.7499/j.issn.1008-8830.2210045.
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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。
BMC Pediatr. 2022 Feb 7;22(1):82. doi: 10.1186/s12887-022-03148-x.
3
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.
4
Expression of Normal or Mutated X-Linked Transcripts in OFCD iPSCs.正常或突变的 X 连锁转录本在 OFCD iPSCs 中的表达。
J Dent Res. 2020 Feb;99(2):196-203. doi: 10.1177/0022034519890323. Epub 2019 Nov 27.
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BCOR involvement in cancer.BCOR 与癌症的关联。
Epigenomics. 2019 May;11(7):835-855. doi: 10.2217/epi-2018-0195. Epub 2019 May 31.
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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.