A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus
S Kuroiwa1, T Kikuchi, N Yoshimura
1Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
Purpose:
To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus.
Method:
We examined the RDH5 gene genotype in members of a Japanese family. Clinical examination showed that the proband had fundus albipunctatus and his aunt had retinitis pigmentosa. The RDH5 gene was analyzed by direct genomic sequencing.
Results:
The proband had a compound heterozygotic missense mutation of Val177Gly (GTC-->GGC) and Arg280His (CGC-->CAC) in his RDH5 gene. His mother had the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene. The occurrence of Val177Gly has not been reported in the RDH5 gene of fundus albipunctatus.
Conclusion:
A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus.
Related Concept Videos
01:11Genetic Lingo
01:39Epistasis
02:32Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
01:09Epistasis Analysis
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...