ArticleAmerican journal of medical genetics. Part A2019
SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Identification of a Protein-truncating Variant inCurrent medicinal chemistry · 2026Article
- Comprehensive exome profiling identifiesTheranostics · 2025Article
- Article
- Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.International journal of molecular sciences · 2024Article
- Dynamic enhancer landscapes in human craniofacial development.Nature communications · 2024Article
- Retrotransposon insertions associated with risk of neurologic and psychiatric diseases.EMBO reports · 2023Article
- CircSCAPER contributes to IL-1β-induced osteoarthritis in vitro via miR-140-3p/EZH2 axis.Bone & joint research · 2022Article
- Absence of SCAPER causes male infertility in humans andJournal of medical genetics · 2021Article
- On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Review
- Delineating the expanding phenotype associated with SCAPER gene mutation.American journal of medical genetics. Part A · 2019Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa with the extraocular manifestations of intellectual disability and attention-deficit/hyperactivity disorder. We present the case of an 11-year-old boy that presented to our clinic with the complaint of decreased night vision. Clinical presentation, family history, and diagnostic imaging were congruent with the diagnosis of autosomal recessive retinitis pigmentosa. Genetic testing of the patient and both parents via whole-exome sequencing revealed the homozygous mutation c.2023-2A>G in SCAPER. Unique to our patient's presentation is the absence of intellectual disability and attention-deficit/hyperactivity disorder, suggesting that SCAPER-associated retinitis pigmentosa can also present without systemic manifestations.
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