Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
复制标题
ABCA4 相关视网膜病的基因型-表型关联。
DOI：
10.1007/978-3-031-27681-1_42
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发表时间：
2023
影响因子：
--
通讯作者：
Brooks,BrianP
中科院分区：
文献类型：
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作者：
Pfau,Maximilian;Zein,WadihM;Huryn,LaryssaA;Cukras,CatherineA;Jeffrey,BrettG;Hufnagel,RobertB;Brooks,BrianP
Stargardt病（STGD1）是最常见的遗传性视网膜变性。它是由双等位abca4变异引起的，迄今尚无治疗方法。STGD1表现出显著的表型变异性，特别是在发病年龄方面。潜在的基因型可以部分解释这种差异。值得注意的是，与截断ABCA4变异相比，ABCA4变异子集先前与更早的疾病发病相关，这指出了这些患者中基因功能丧失之外的致病机制。另一方面，p.Gly1961Glu等变异与中央凹外疾病进展明显减慢相关。鉴于这些表型的巨大差异是基于基因型的（对患者的预后有重要影响），本章回顾了先前在STGD1中基因型-表型相关分析的方法。
Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelicABCA4variants, and no treatment is available to date. STGD1 shows marked phenotypic variability, especially regarding the age of onset. The underlying genotype can partially explain this variability. Notably, a subset of ABCA4 variants was previously associated with an earlier disease onset than truncatingABCA4variants, pointing toward pathogenic mechanisms beyond the loss of gene function in these patients. On the other end of the spectrum, variants such as p.Gly1961Glu were associated with markedly slower extrafoveal disease progression. Given that these drastic differences in phenotype are based on genotype (resulting in important prognostic implications for patients), this chapter reviews previous approaches to genotype–phenotype correlation analyses in STGD1.
DOI：
10.1136/ebmh.11.4.102
发表时间：
2008-10
期刊：
Evidence Based Mental Health
影响因子：
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作者：
P. Cochat;L. Vaucoret;J. Sarles
通讯作者：
P. Cochat;L. Vaucoret;J. Sarles