title: Novel CHM mutations identified in Chinese families with Choroideremia.
abstract: Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It is caused by mutations in the ubiquitously expressed CHM gene, which lead to the absence of the Rab escort protein 1 (REP-1), resulting in prenylation deficiency. Typical fundus appearances for choroideremia were found in 3 probands from three unrelated Chinese families in our study. We firstly used the targeted exome sequencing (TES) technology to detect mutations in CHM gene. Based on an established filtering strategy of data analyses, along with confirmation by co-segregation, a previously reported mutation (c.1584_1587del TGTT, p.V529Hfs*7) was identified in one family, while two novel mutations (c.227_232delinsTGTCATTTCA, p.Q76Lfs*7; c.710dupA, p.Y237_S238delinsX) were identified in the other two families. These findings not only expands the currently limited spectrum of Chinese disease-causing variants in CHM gene, but also increases our understanding of the phenotypic and genotypic correlations of choroideremia, and may potentially lead to improved genetic counseling and specific treatment for families with choroideremia as well.
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Xue-Bi
authors.initials: XB
authors.lastname: Cai
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Huang
authors.affiliation: Fuzhou Southeastern Eye Hospital, Fuzhou, 350000, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Tong
authors.affiliation: Department of Ophthalmology, Yinzhou People's Hospital, Medical School of Ningbo University, Ningbo, 315040, China.
authors.forename: Qin-Kang
authors.initials: QK
authors.lastname: Lu
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D044466:Asian People; D015794:Choroideremia / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D014792:Visual Acuity / Q000235:genetics / Q000502:physiology; D000073359:Exome Sequencing
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human