title: Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
abstract: OBJECTIVE
  The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD).
  
  
  METHODS
  Forty-seven probands from unrelated families with CORD were recruited. Genomic DNA prepared from leukocytes was analyzed by whole exome sequencing. Variants in the 25 genes were selected and then validated by Sanger sequencing.
  
  
  RESULTS
  Fourteen potential pathogenic mutations, including nine novel and five known, were identified in 10 of the 47 families (21.28%). Homozygous, compound heterozygous, and hemizygous mutations were detected in three, four, or three families, respectively. The 14 mutations in the 10 families were distributed among CNGB3 (three families), PDE6C (two families), ABCA4 (one family), RPGRIP1 (one family), RPGR (two families), and CACNA1F (one family).
  
  
  CONCLUSIONS
  This study provides a brief view on mutation spectrum of the 25 genes in a Chinese cohort with CORD. Identification of novel mutations enriched our understanding of variations in these genes and their associated phenotypes. To our knowledge, this is the first systemic exome-sequencing analysis of all of the 25 CORD-associated genes.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China.
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.forename: Qingyan
authors.initials: Q
authors.lastname: Zhang
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Liping
authors.initials: L
authors.lastname: Guan
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Wenmin
authors.initials: W
authors.lastname: Sun
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Zhu
authors.forename: Yang
authors.initials: Y
authors.lastname: Gao
authors.forename: Ye
authors.initials: Y
authors.lastname: Yin
authors.forename: Panfeng
authors.initials: P
authors.lastname: Wang
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D020746:Calcium Channels, L-Type / Q000235:genetics; D002681:China; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D003598:Cytoskeletal Proteins; D059472:Exome / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; C113330:CACNA1F protein, human; C415904:CNGB3 protein, human; D020746:Calcium Channels, L-Type; D054815:Cyclic Nucleotide-Gated Cation Channels; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D011506:Proteins; C099929:RPGR protein, human; C415903:RPGRIP1 protein, human; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C096885:PDE6C protein, human