Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
| Autor: | Osama Raddadi, Eman Azzam, Abdulaziz A Alshamrani, Christine Neuhaus, Patrik Schatz, Steffen Lenzner, Ehab Abdelkader |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Retinal degeneration
CNGB1 genetic structures Case Report Compound heterozygosity 03 medical and health sciences Exon 0302 clinical medicine lcsh:Ophthalmology Retinitis pigmentosa medicine Rod-cone dystrophy Missense mutation Genetic testing Genetics medicine.diagnostic_test business.industry Macular degeneration medicine.disease eye diseases Novel variant Ophthalmology lcsh:RE1-994 030221 ophthalmology & optometry sense organs business 030217 neurology & neurosurgery |
| Zdroj: | American Journal of Ophthalmology Case Reports, Vol 19, Iss, Pp 100780-(2020) American Journal of Ophthalmology Case Reports |
| ISSN: | 2451-9936 |
| Popis: | Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the latter variant in heterozygous status. The affected siblings presented with a phenotype showing markedly constricted visual field, flat scotopic and photopic electroretinogram responses and generalized retinal atrophy. Conclusions and importance: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration. This study expands the molecular genetic basis of CNGB1-related disease. (Less) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|