CERKL mutation causing retinitis pigmentosa(RP) in Indian population – a genotype and phenotype correlation study
| Autor: | Pradeep T Manchegowda, Srikrupa N. Natarajan, Puja Maitra, Parveen Sen, Srivatsan Sripriya, Sinnakaruppan Mathavan, Muna Bhende |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Adolescent Visual Acuity India 030105 genetics & heredity Biology Young Adult 03 medical and health sciences 0302 clinical medicine Genotype-phenotype distinction CERKL Gene Retinitis pigmentosa medicine Humans Genetic Testing Child Genetic Association Studies Genetics (clinical) Retrospective Studies Genetics Indian population Middle Aged medicine.disease Phenotype eye diseases Pedigree Phosphotransferases (Alcohol Group Acceptor) Ophthalmology Cross-Sectional Studies Child Preschool Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) 030221 ophthalmology & optometry Female Visual Fields Retinitis Pigmentosa |
| Zdroj: | Ophthalmic Genetics. 41:570-578 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2020.1814347 |
| Popis: | Mutations inA retrospective analysis was performed in 28 eyes of the 14 unrelated patients to establish genotype phenotype correlation. Targeted next generation sequencing was performed using the STRAND® NGS v2.5 software. Validation was done using PCR-based bidirectional Sanger sequencing. Clinical data was collected along with imaging such as fundus photo, autofluorescence(AF), Optical coherence tomography and Electroretinogram wherever available.Three variants c.1045_1046delAT, c.847 C T and a novel c.899-IGA were identified. Retinal morphological features were typically bilaterally symmetrical with mild to moderate disc pallor and arteriolar attenuation in all cases, while sparse peripheral pigmentation was noted in seven patients indicating paucipigmentary character. Early macular involvement in all cases was a characteristic finding with central hypo-autofluorescence and surrounding hyper-autofluorescence. Peripheral scalloped chorioretinal atrophic patches were seen in five patients particularly in older patients.Phenotype associated with CERKL mutation appears clinically discrete from other commonly encountered phenotypes of inherited retinal dystrophies. Recognizing this typical genotype phenotype correlation will help clinicians to identify this form of RP, prognosticate the disease and segregate candidates for futures gene therapy. |
| Databáze: | OpenAIRE |
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