CLN 基因变异患者队列中视网膜疾病的表型变异性。
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
机构信息
Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, New York, New York, United States.
College of Medicine at the State University of New York at Downstate Medical Center, Brooklyn, New York, United States.
出版信息
Invest Ophthalmol Vis Sci. 2023 Mar 1;64(3):23. doi: 10.1167/iovs.64.3.23.
PURPOSE
To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature.
METHODS
Eleven patients with confirmed biallelic variants in the CLN genes were evaluated via dilated fundus examination, clinical imaging, and full-field electroretinogram. A thorough literature search was conducted to determine previously published variants and associated phenotypes.
RESULTS
Genetic testing confirmed the presence of variants in CLN3, CLN7/MFSD8, CLN8, and GRN/CLN11. Five novel variants were identified, and four novel phenotypes of previously published alleles were described. The phenotype differed among patients with variants in the same gene and sometimes among patients with the same allele.
CONCLUSIONS
Substantial phenotypic variability among variants in the CLN genes makes identification of genotype-phenotype or allele-phenotype correlations challenging. Further study is required to establish an extensive database for adequate patient counseling.
目的
描述美国哥伦比亚大学医学中心和巴西伯南布哥州临床医院的一组 CLN 相关视网膜营养不良患者的表型，并与已发表的文献进行比较。
方法
通过散瞳眼底检查、临床成像和全视野视网膜电图评估 11 名经证实存在 CLN 基因双等位基因突变的患者。进行了全面的文献检索，以确定先前发表的变异体及其相关表型。
结果
基因检测证实 CLN3、CLN7/MFSD8、CLN8 和 GRN/CLN11 基因存在变异。发现了 5 个新的变异体，并描述了以前报道的等位基因的 4 个新表型。同一基因中不同变异体的表型存在差异，有时同一等位基因的患者表型也存在差异。
结论
CLN 基因中的变异体存在显著的表型变异性，使得确定基因型-表型或等位基因-表型相关性具有挑战性。需要进一步研究以建立一个广泛的数据库，为患者提供充分的咨询。
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