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. 2019 Aug;179(8):1665-1671.
doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13.

Delineating the Expanding Phenotype Associated With SCAPER Gene Mutation

Free PMC article

Delineating the Expanding Phenotype Associated With SCAPER Gene Mutation

James Fasham et al. Am J Med Genet A. .
Free PMC article


No abstract available

Keywords: Brachydactyly; CCNA2-CDK2; Intellectual disability; Retinitis pigmentosa; SCAPER.


Figure 1
Figure 1
(a) Simplified pedigree of the Amish family investigated, with electropherograms showing the SCAPER c.2236dupT sequence variant in all affected and unaffected individuals in generations VI and VII (black arrow identifies the duplicated nucleotide). (b) Pictorial representation of the single nucleotide polymorphism (SNP) genotypes across the ~18.1 Mb chromosome 15q21‐22 region identified in this family. (c–j) Clinical features of SCAPER syndrome patients. (c, d) Brachydactyly, camptodactyly, and proximally placed thumbs identified on examination of patient 1. (e, f) ocular imaging and investigations from patient 3 illustrating features of RP (e: Right eye, f: Left eye) fundus photograph (Optos plc, Dunfermline, UK) showing optic disc pallor, attenuated retinal vessels and mid‐peripheral bone spicule pigmentation (g: Right eye, h: Left eye) FAF imaging showing mid‐peripheral hypoautofluorescence with a central ring of hyperautofluorescence demarcating the surviving outer retinal structures. (i: Right eye, j: Left eye) optical coherence tomography (Spectralis‐OCT, Heidelberg Engineering, Heidelberg, Germany) of the central retina demonstrating loss of photoreceptor outer segments with retained central macular structure corresponding to FAF findings. FAF, fundus autofluorescence; OCT, optical coherence tomography; SCAPER, S‐phase cyclin A‐associated protein residing in the endoplasmic reticulum

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