Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
| Autor: | Cecilia Diez Montero, Javier Antonio Montero-Moreno, Hortensia Sanchez Tocino, Ana Villanueva Gómez, Rosa Lobo Valentin |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Proband Adult Male Heterozygote Genetic counseling DNA Mutational Analysis 030105 genetics & heredity Biology Loss of heterozygosity 03 medical and health sciences Exon 0302 clinical medicine Retinitis pigmentosa medicine Electroretinography Humans Child Eye Proteins Gene Genetics (clinical) Genetic Association Studies Aged Genetics Genetic heterogeneity Genetic Diseases X-Linked Exons Middle Aged medicine.disease eye diseases Pedigree Ophthalmology Phenotype Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation Myopia Degenerative 030221 ophthalmology & optometry Visual Field Tests Female Visual Fields Retinitis Pigmentosa |
| Zdroj: | Ophthalmic genetics. 40(2) |
| ISSN: | 1744-5094 |
| Popis: | Background Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. The most severe form of this disease is X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life. Two genes commonly associated with XLRP have been previously identified. Material and methods One Spanish family with confirmed XLRP was studied for mutations using direct sequencing. A genotype-phenotype correlation with pathologic myopia (PM) is detailed. Results A new pathogenic mutation in the third exon of the RP GTPase regulator (RPGR) was identified: a variant c212C>G (pSER71*). This mutation appears as a hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibit symmetrical PM in both eyes. Conclusion A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP. |
| Databáze: | OpenAIRE |
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