PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
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.
摘要：
目的：研究一个患有常染色体显性遗传性视网膜色素变性（RP）并伴有虹膜缺损的中国家庭的表型和基因型。
方法：先证者，一个34岁的男性,通过眼底照相与他的家人一起检查，光学相干断层扫描(OCT),自发荧光,和全场视网膜电图（ffERG）。通过全外显子组测序(WES)进行遗传分析以筛选变异。
结果：该中国家族的三个成员被证明是双侧虹膜缺损。男性先证者及其母亲表现出典型的RP特征。先证者的已故祖父已被记录为虹膜缺损的表现。遗传方式被证实为常染色体显性。通过链接分析和WES，miR-204基因的杂合变异（n.37C>T），非编码RNA基因，在这三个成员中被确认。
结论：在第三个独立和第一个亚洲家庭中，已证实存在与RP相关的miR-204变异体,并伴有虹膜缺损.我们的发现加强了miR-204作为影响视网膜视觉功能的重要因素的重要性。当表型如RP伴有常染色体显性遗传模式的虹膜缺损时，包括中国患者，应该考虑miR-204畸变。
方法：先证者，一个34岁的男性,通过眼底照相与他的家人一起检查，光学相干断层扫描(OCT),自发荧光,和全场视网膜电图（ffERG）。通过全外显子组测序(WES)进行遗传分析以筛选变异。
结果：该中国家族的三个成员被证明是双侧虹膜缺损。男性先证者及其母亲表现出典型的RP特征。先证者的已故祖父已被记录为虹膜缺损的表现。遗传方式被证实为常染色体显性。通过链接分析和WES，miR-204基因的杂合变异（n.37C>T），非编码RNA基因，在这三个成员中被确认。
结论：在第三个独立和第一个亚洲家庭中，已证实存在与RP相关的miR-204变异体,并伴有虹膜缺损.我们的发现加强了miR-204作为影响视网膜视觉功能的重要因素的重要性。当表型如RP伴有常染色体显性遗传模式的虹膜缺损时，包括中国患者，应该考虑miR-204畸变。
