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Analysis of PDE6G mutations in a patient with retinitis pigmentosa.
- Source :
- BMC Ophthalmology; 8/19/2024, Vol. 24 Issue 1, p1-4, 4p
- Publication Year :
- 2024
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14712415
- Volume :
- 24
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- BMC Ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 179085794
- Full Text :
- https://doi.org/10.1186/s12886-024-03623-2