[HTML][HTML] Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes
PLoS One, 2013•journals.plos.org
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 …
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 …
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.
PLOS