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TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.

作者信息

Si-Min Ng Pamela, Khan Shazia, Lim Jiin Ying, Chew-Yin Goh Jasmine, Lin Grace Xiulin, Wei Heming, Tan Ene Choo, Jamuar Saumya Shekhar

机构信息

Departments of Paediatrics.

Ophthalmology, KK Women's and Children's Hospital.

出版信息

Clin Dysmorphol. 2019 Oct;28(4):215-218. doi: 10.1097/MCD.0000000000000290.

DOI:10.1097/MCD.0000000000000290
PMID:31490282
Abstract
摘要

相似文献

1
TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.一名儿童及其母亲患有主要眼部异常的TFAP2A突变：鳃-眼-面综合征的非典型表现
Clin Dysmorphol. 2019 Oct;28(4):215-218. doi: 10.1097/MCD.0000000000000290.
2
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.
Am J Med Genet A. 2013 Apr;161A(4):901-4. doi: 10.1002/ajmg.a.35804. Epub 2013 Mar 12.
3
Ocular anomalies in the branchio-oculo-facial syndrome.鳃裂-眼-面综合征中的眼部异常。
Aust N Z J Ophthalmol. 1998 Feb;26(1):43-6. doi: 10.1046/j.1440-1606.1998.00075.x.
4
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.一种在以眼部表型为主的家族性鳃-眼-面综合征中发现的新型TFAP2A突变。
Ophthalmic Genet. 2011 Nov;32(4):250-5. doi: 10.3109/13816810.2011.592176. Epub 2011 Jul 5.
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Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.鳃裂-眼-面综合征的眼部表现：一例新突变报告及文献复习
Mol Vis. 2010 May 8;16:813-8.
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Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.鳃-眼-面综合征的临床表现及听力损害情况：TFAP2A基因的一个新突变
Ann Otol Rhinol Laryngol. 2010 Dec;119(12):806-14. doi: 10.1177/000348941011901204.
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A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.一个主要累及眼部的鳃-眼-面综合征家族，与TFAP2A基因突变相关。
Ophthalmic Genet. 2012 Jun;33(2):100-6. doi: 10.3109/13816810.2011.634878. Epub 2011 Dec 22.
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Ocular manifestations in a family with brachio-oculo-facial syndrome.一个患有臂-眼-面综合征的家族中的眼部表现。
J AAPOS. 2019 Jun;23(3):180-182. doi: 10.1016/j.jaapos.2019.01.007. Epub 2019 Feb 27.
9
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.TFAP2A 功能降低导致视裂闭合和视网膜缺陷的变异性，并使眼部发育对其他形态发生调节剂的突变敏感。
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Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.
Am J Med Genet A. 2010 Aug;152A(8):2143. doi: 10.1002/ajmg.a.33512.

引用本文的文献

1
A Heterozygous Novel Mutation in Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.基因中的一种杂合新型突变导致伴有孤立性脉络膜缺损的非典型鳃-眼-面综合征：一例报告
Front Pediatr. 2020 Jul 17;8:380. doi: 10.3389/fped.2020.00380. eCollection 2020.