دورية أكاديمية
Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.
| العنوان: | Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant. |
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| المؤلفون: | Yassin SH; Shiley Eye Institute, University of California, San Diego, California, USA., Kalaw FGP; Shiley Eye Institute, University of California, San Diego, California, USA., Li A; Shiley Eye Institute, University of California, San Diego, California, USA., Fletcher E; Department of Pediatrics, Children's Primary Care Medical Group, San Diego, California, USA., Borooah S; Shiley Eye Institute, University of California, San Diego, California, USA. |
| المصدر: | Ophthalmic genetics [Ophthalmic Genet] 2024 Feb; Vol. 45 (1), pp. 63-71. Date of Electronic Publication: 2023 May 09. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Buren, The Netherlands : Aeolus Press, c1994- |
| مواضيع طبية MeSH: | Retinitis Pigmentosa*/diagnosis , Retinitis Pigmentosa*/genetics , Retinitis Pigmentosa*/pathology , Retinal Dystrophies*, Male ; Humans ; Adolescent ; Frameshift Mutation ; Mutation ; Phenotype ; Retinal Cone Photoreceptor Cells/pathology ; Pedigree ; Carrier Proteins/genetics |
| مستخلص: | Purpose: Mutations in the SCAPER gene have previously been reported to be a rare cause of syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). We report a case of syndromic RP caused by a frameshift heterozygous mutation in SCAPER . Our case has a relatively mild ocular phenotype with the presence of cone involvement noted on full field electroretinogram (ffERG) without impacting central or color vision. Materials and Methods: A 17-year-old male presented with progressive nyctalopia in both eyes. He underwent ophthalmic examination and multimodal imaging. A complete retinal degeneration panel consisting of 322 genes was used to screen for molecular causes of retinal dystrophy in this patient along with family segregation analysis. Results: Fundus examination of the proband revealed mild RP phenotype with waxy pallor of optic discs, attenuated retinal arterioles, and single bone spicule like pigmentary change in the mid-periphery bilaterally. Multimodal imaging and ffERG demonstrated a picture of RP with cone dysfunction without impacting central or color vision bilaterally. Examined family members were found to be normal. The proband was found to be heterozygous for two novel frameshift pathogenic variants in SCAPER c.3781del, p. (Val1261Serfs*26), c.868_869del, p. (Glu290Serfs*7) both leading to predicted premature termination. The family members tested were found to be heterozygous for SCAPER c.868_869del, p. (Glu290Serfs*7) pathogenic variant confirming their carrier status. Conclusion: We report a case of a syndromic RP of previously unreported ocular phenotype associated with SCAPER pathogenic variant, which will add to the phenotypic spectrum of retinopathy and systemic features associated with pathogenic variants in SCAPER . |
| فهرسة مساهمة: | Keywords: SCAPER; autosomal recessive; intellectual disability; retinitis pigmentosa |
| المشرفين على المادة: | 0 (SCAPER protein, human) 0 (Carrier Proteins) |
| تواريخ الأحداث: | Date Created: 20230510 Date Completed: 20240129 Latest Revision: 20240129 |
| رمز التحديث: | 20240129 |
| DOI: | 10.1080/13816810.2023.2204359 |
| PMID: | 37160720 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1744-5094 |
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| DOI: | 10.1080/13816810.2023.2204359 |