دورية أكاديمية
Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa.
| العنوان: | Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa. |
|---|---|
| المؤلفون: | Sengillo, Jesse D, Fridman, Gabrielle, Cho, Galaxy Y, Buchovecky, Christie, Tsang, Stephen H |
| المصدر: | Reading Hospital Internal Medicine Residency |
| بيانات النشر: | Scholar Commons @ Tower Health |
| سنة النشر: | 2018 |
| المجموعة: | Scholar Commons @ Tower Health |
| مصطلحات موضوعية: | Adolescent, Adult, Carrier State, Ciliary Motility Disorders, Electroretinography, Eye Proteins, Female, Humans, Male, Mutation, Pedigree, Retinitis Pigmentosa, Tomography, Optical Coherence, Visual Acuity, Whole Exome Sequencing, Ophthalmology |
| الوصف: | The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Determining the pathogenicity of novel variants is important for enrollment of patients into gene therapy trials. Sequencing and analysis of RPGR variants in ORF15 is challenging, as it is highly repetitive and rich in purines. Overlapping reading frames and polymorphic insertions / deletions add further complexity to the detection of mutations. Identifying systemic manifestations in affected males and carrier phenotype in related females expedites confirmation of pathogenic variants. The authors present a 16-year-old boy with a history of primary ciliary dyskinesia presenting with complaints of nyctalopia and visual field constriction. Multimodal imaging found peripheral thinning of the retina and a characteristic foveal hyperautofluorescent ring in the proband, and a carrier phenotype in the asymptomatic mother. A novel c.1059_1059+2delGGT, p.(?) variant in RPGR was identified as hemizygous in the affected boy and heterozygous in his mother. This case study expands the genotypic spectrum of RPGR variants associated with systemic manifestations. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:548-552.]. |
| نوع الوثيقة: | text |
| اللغة: | unknown |
| العلاقة: | https://scholarcommons.towerhealth.org/gme_int_med_resident_program_read/16Test; https://www.healio.com/ophthalmology/journals/osli/2018-7-49-7/%7B36ab11f8-0be7-4743-bf6d-c12691bd75d7%7D/novel-mutation-in-retinitis-pigmentosa-gtpase-regulator-gene-causes-primary-ciliary-dyskinesia-and-retinitis-pigmentosaTest |
| الإتاحة: | https://scholarcommons.towerhealth.org/gme_int_med_resident_program_read/16Test https://www.healio.com/ophthalmology/journals/osli/2018-7-49-7/%7B36ab11f8-0be7-4743-bf6d-c12691bd75d7%7D/novel-mutation-in-retinitis-pigmentosa-gtpase-regulator-gene-causes-primary-ciliary-dyskinesia-and-retinitis-pigmentosaTest |
| رقم الانضمام: | edsbas.D2836697 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |