鲁宾斯坦-泰比综合征眼部发现的基因型-表型分析--病例报告和文献综述。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-04-05 DOI:10.1080/13816810.2023.2196341
Eva Jin, Hong Le, Ann Jewell, Natario L Couser
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引用次数: 0

摘要

背景:鲁宾斯坦-泰比综合征(Rubinstein-Taybi Syndrome,RSTS)是一种罕见的遗传综合征,具有多种表型表现,包括特征性面部特征。在鲁宾斯坦-泰比综合征患者中已发现多种眼部异常。RSTS 的遗传病因不尽相同,但通常涉及两个主要基因:CREBBP(cAMP 反应元件结合蛋白结合蛋白)和 EP300(E1A 结合蛋白 p300),其中 CREBBP 变异是大多数病例的病因:我们报告了一例新的女性患者,她患有 CREBBP 变异(c.4495C>G),其临床特征与 RSTS 一致。我们进行了文献综述,以寻找 CREBBP 变异类型与眼部表现频率之间可能存在的基因型-表型关系。在PubMed上搜索到了12篇符合我们纳入标准的文章。加上我们的患者,共有163名患者被纳入突变分析(164个变体,因为一名患者有两个不同的变体):我们的综述显示,最常见的变异类型为框移(25%)、总缺失(23%)、无义(18%)和基因内缺失(13%)。似乎没有明显的热点位置。共有 127 名患者被纳入眼部特征的基因型-表型分析(36 名患者因无法辨别变异类型而被排除)。RSTS患者最常见的眼部特征是睑裂向下倾斜(74%)、弯眉(56%)、长睫毛(52%)和斜视(23%):我们的研究结果表明,目前在 RSTS 患者中,变异类型与相关眼部特征频率之间没有明确的基因型与表型关系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome with a wide range of phenotypic presentations, including characteristic facial features. A variety of ocular abnormalities have been described in patients with RSTS. The genetic etiology of RSTS is heterogeneous but often involves two major genes, CREBBP (cAMP-response element binding protein-binding protein) and EP300 (E1A binding protein p300), with CREBBP variants responsible for the majority of the cases.

Materials and methods: We report a new case of female patient with a novel variant in CREBBP (c.4495C>G), with clinical features consistent with RSTS. We performed a literature review to search for possible genotype-phenotype relationships between the type of variant in CREBBP and frequency of ocular presentations. A PubMed search generated 12 articles that met our inclusion criteria. With the addition of our patient, there were a total of 163 patients included for mutation analysis (164 variants given one patient had two different variants).

Results: Our review revealed that the most common variant types were frameshift (25%), gross deletion (23%), nonsense (18%), and intragenic deletions (13%). There does not appear to be an obvious hot spot location. A total of 127 patients were included for genotype-phenotype analysis of ocular features (36 patients were excluded as unable to discern variant type). The most frequent ocular features in patients with RSTS were down-slanting palpebral fissure (74%), arched eyebrows (56%), long eyelashes (52%), and strabismus (23%).

Conclusions: Our results suggest that currently there is no clear genotype-phenotype relationship between the type of variant and frequency of associated ocular features in RSTS patients.

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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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