Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Objective: The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese familieswith cone-rod dystrophy (CORD). Methods: Forty-seven probands from unrelated familieswith 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 familieswere 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.