Zhang Lei, Zhu He-Lin, Wang Hai-Yan, Jia Wei, Wang Ru, Cui Zhi-Li, Wang Qian-Feng
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引用次数: 0
Abstract
Purpose: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma.
Methods: 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.
Results: 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.
Conclusions: 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.
目的：研究一个中国常染色体显性遗传视网膜色素变性（RP）伴虹膜色素瘤家族的表型和基因型：方法：通过眼底摄影、光学相干断层扫描（OCT）、自发荧光和全场视网膜电图（fferg）对34岁男性原发性视网膜色素变性患者及其家人进行了检查。通过全外显子组测序（WES）进行了遗传分析，以筛查变异：结果：在这个中国家庭中，有三名成员被证明患有双侧虹膜色素瘤。男性患者及其母亲具有典型的 RP 特征。原告已故的祖父曾有过虹膜色瘤的表现。遗传方式被证实为常染色体显性遗传。通过关联分析和WES，在这三名成员中发现了非编码RNA基因miR-204基因的杂合变异（n.37C>T）：结论：在这第三个独立的、也是第一个亚洲家族中，证实了存在与虹膜色素瘤伴随的 RP 相关的 miR-204 变异。我们的研究结果加强了 miR-204 作为影响视网膜视觉功能的重要因素的重要性。当包括中国患者在内的常染色体显性模式中出现 RP 伴虹膜色素瘤等表型时，应考虑 miR-204 畸变。
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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