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Updated: Jun 16, 2025
A Rhodopsin Transport Assay by High-Content Imaging Analysis
Published on: January 16, 2019
Analysis of PDE6G mutations in a patient with retinitis pigmentosa
Xiaona Liu1, Peiyan Shi1, Jinling Ge2
1Jinan Mingshui Eye Hospital, Longquan Road 5601, Zhangqiu District, Jinan, China.
Background:
Mutations in PDE6A and PDE6B are known to cause autosomal recessive RP in humans, On the other hand, mutations in PDE6G are rare but can lead to severe early-onset RP.
Case Presentation:
An 8-year-old Chinese boy was referred to our hospital for poor vision issues. Refraction with cycloplegia showed high hyperopia with astigmatism both eyes. Funduscopic examination revealed typical bone spicule-type pigment deposits in the periphery and midperiphery. The patient was given glasses and a whole exome sequencing containing mitochondrial genes was performed. The results of genetic testing showed that there was a heterozygous frameshift mutation and a segment deletion in the proband's PDE6G gene. Analysis of the parental genes showed that frameshift mutation was inherited from the proband's mother and segment deletion from his father.
Conclusions:
In this paper, we give a firsthand report that the complex heterozygous mutations of PDE6G gene can causes autosomal recessiveRP (arRP), which expands the understanding of the pathogenic genes of RP.
