TY - JOUR AB - Mutations in almost 200 genes are associated with hereditary retinal diseases. Of these diseases, retinitis pigmentosa (RP) is the most common and is genetically and clinically highly heterogeneous. At least 62 genes are associated with RP and mutations in these genes account for approximately half of the cases of disease. In the present study, mutations in the CHM gene, which are known to associate with choroideremia, were identified in six of 157 families with retinitis pigmentosa by whole exome sequencing. No potential pathogenic mutations in the 62 RP‑associated genes were found in the six families. Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.703‑1G>A and c.1584_1587delTGTT) mutations. Available clinical data suggest an atypical phenotype of choroideremia in these patients compared to that of Caucasians. Overlapping clinical features and atypical phenotypic variation may contribute to the confusion of one another. Awareness of the phenotypic variation and careful clinical examination may facilitate proper clinical diagnosis and genetic counseling of complicated hereditary retinal diseases. Whole exome sequencing therefore is useful in the identification of genetic cause for less clarified hereditary retinal diseases and enriches our understanding of phenotypic variations of gene mutation. AD - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China BGI‑Shenzhen, Shenzhen, Guangdong 518083, P.R. China AU - Li,Shiqiang AU - Guan,Liping AU - Fang,Shaohua AU - Jiang,Hui AU - Xiao,Xueshan AU - Yang,Jianhua AU - Wang,Panfeng AU - Yin,Ye AU - Guo,Xiangming AU - Wang,Jun AU - Zhang,Jianguo AU - Zhang,Qingjiong DA - 2014/08/01 DO - 10.3892/ijmm.2014.1797 EP - 577 IS - 2 JO - Int J Mol Med KW - whole exome sequencing mutations CHM retinitis pigmentosa choroideremia PY - 2014 SN - 1107-3756 1791-244X SP - 573 ST - Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa T2 - International Journal of Molecular Medicine TI - Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa UR - https://doi.org/10.3892/ijmm.2014.1797 VL - 34 ER -