Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Signs for PXE |
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Signs for GACI |
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Visual function | PXE
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Systemic features | PXE
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Key investigations |
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Molecular diagnosis | Skin biopsy
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Management | Ocular
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Therapies under research |
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Further information |
Additional information
- Majority of patients with heterozygous mutations present with limited manifestations of the PXE phenotype
- In rare cases, heterozygous mutations result in the full PXE phenotype in two successive generations due to pseudodominance. This specific phenotype is known as PXE, forme fruste (#177850)
- It has been suggested that GACI and PXE represent two ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than two distinct disorders
References
- Orssaud C, Roche O, Dufier J-L, Germain DP. Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients. Ophthalmic Genetics. 2015;36(4):327–32
- Roach ES, Islam MP. Pseudoxanthoma elasticum. Handb Clin Neurol. 2015;132:215‐221
- Finger RP, Charbel Issa P, Ladewig MS, et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009;54(2):272‐285
- Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012;90(1):25‐39
- Charbel Issa P, Finger RP, Holz FG, Scholl HP. Multimodal imaging including spectral domain OCT and confocal near infrared reflectance for characterization of outer retinal pathology in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2009;50(12):5913‐5918