Zhou Qi, Liu Liang, Xu Fei, Li Hui, Sergeev Yuri, Dong Fangtian, Jiang Ruxin, MacDonald Ian, Sui Ruifang
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Mol Vis. 2012;18:309-16. Epub 2012 Feb 3.
To describe the phenotype and genotype of three Mainland Chinese families affected by choroideremia (CHM).
Complete ophthalmic examinations were conducted in three unrelated Chinese families with CHM. Peripheral blood samples were collected from the families for genetic and immunoblot analysis. All exons and flanking intronic regions of the gene encoding Rab escort protein-1 (Rep-1) were amplified with PCR and screened for mutations with Sanger sequencing. The three-dimensional structure of mutated Rep-1 was modeled using sequence homology with rat proteins to analyze the effect of the mutation detected in one family.
All affected males had characteristic signs and symptoms of CHM; however, central visual acuity impairment occurred earlier than expected. All female carriers older than 45 years had pigmentary changes, and one female carrier was symptomatic with vision loss. Three different mutations in Rep-1, c.1801-1G>A, c.1130 T>A, and c.612delAG, were detected in the three families.
In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (≥ 45 years). One previously reported and two novel Rep-1 mutations were detected in three Chinese patients with CHM.
描述三个患有脉络膜视网膜炎（CHM）的中国大陆家庭的表型和基因型。
对三个患有CHM的不相关中国家庭进行了全面的眼科检查。从这些家庭采集外周血样本进行基因和免疫印迹分析。采用聚合酶链反应（PCR）扩增编码Rab护送蛋白-1（Rep-1）的基因的所有外显子和侧翼内含子区域，并用桑格测序法筛选突变。利用与大鼠蛋白的序列同源性对突变的Rep-1的三维结构进行建模，以分析在一个家庭中检测到的突变的影响。
所有受影响的男性都有CHM的特征性体征和症状；然而，中心视力损害比预期出现得更早。所有年龄超过45岁的女性携带者都有色素沉着变化，一名女性携带者有视力丧失的症状。在这三个家庭中检测到Rep-1的三种不同突变，即c.1801-1G>A、c.1130 T>A和c.612delAG。
在中国大陆家庭中，CHM男性患者的中心视力在早年（第二个十年）就可能受到影响，而女性CHM携带者可能在较晚年龄（≥45岁）出现体征和症状。在三名中国CHM患者中检测到一个先前报道的和两个新的Rep-1突变。
