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CEP290-related ciliopathy

MedGen UID:
987222
•Concept ID:
CN305601
•
Disease or Syndrome
Synonym: CEP290 ciliopathy
 
Monarch Initiative: MONDO:0100451

Definition

A ciliopathy caused by biallelic variants in the CEP290 gene. [from MONDO]

Recent clinical studies

Etiology

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC
Hum Mol Genet 2014 Jan 1;23(1):40-51. Epub 2013 Aug 13 doi: 10.1093/hmg/ddt394. PMID: 23943788Free PMC Article
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115

Diagnosis

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation.
Williamson M, Traboulsi E, DeBenedictis M
Ophthalmic Genet 2020 Apr;41(2):171-174. Epub 2020 Mar 24 doi: 10.1080/13816810.2020.1744017. PMID: 32208788

Prognosis

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation.
Williamson M, Traboulsi E, DeBenedictis M
Ophthalmic Genet 2020 Apr;41(2):171-174. Epub 2020 Mar 24 doi: 10.1080/13816810.2020.1744017. PMID: 32208788
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115

Clinical prediction guides

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115

Recent systematic reviews

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781

Supplemental Content

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