Lei Zhang, He-Lin Zhu, Hai-Yan Wang, Wei Jia, Ru Wang, Zhi-Li Cui, Qian-Feng Wang
Xi'an Key Laboratory of Digital Medical Technology of Ophthalmologic Imaging, Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, Shaanxi, China.
Medical College of Optometry and Ophthalmology, Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China.
Mol Genet Genomic Med. 2024 Jun;12(6):e2481. doi: 10.1002/mgg3.2481.
To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma.
The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations.
Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members.
In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered.
对一个伴有虹膜缺损的常染色体显性遗传性视网膜色素变性（RP）中国家系的表型和基因型进行特征分析。
先证者为一名34岁男性，与其家人接受了眼底照相、光学相干断层扫描（OCT）、自发荧光和全视野视网膜电图（ffERG）检查。通过全外显子组测序（WES）进行基因分析以筛查变异。
该中国家系的三名成员表现为双侧虹膜缺损。男性先证者及其母亲表现出典型的RP特征。先证者的外祖父曾有虹膜缺损的记录。遗传方式被确认为常染色体显性。通过连锁分析和WES，在这三名成员中鉴定出非编码RNA基因miR - 204基因的一个杂合变异（n.37C>T）。
在这第三个独立的且首个亚洲家系中，证实了存在与伴有虹膜缺损的RP相关的miR - 204变异。我们的研究结果强化了miR - 204作为影响视网膜视觉功能的重要因素的意义。当出现如以常染色体显性模式伴有虹膜缺损的RP等表型时，包括中国患者，应考虑miR - 204异常。
