Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa
Copyright 2018, SLACK Incorporated.
Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 49(2018), 7 vom: 01. Juli, Seite 548-552 |
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Weitere Verfasser: | , , , |
Format: | Online-Aufsatz |
Sprache: | English |
Veröffentlicht: |
2018
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Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina |
Schlagworte: | Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Eye Proteins RPGR protein, human |
Zusammenfassung: | Copyright 2018, SLACK Incorporated. 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.] |
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Beschreibung: | Date Completed 12.03.2019 Date Revised 07.12.2022 published: Print Citation Status MEDLINE |
ISSN: | 2325-8179 |
DOI: | 10.3928/23258160-20180628-14 |