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CEP290-related disorder

MedGen UID:
893685
•Concept ID:
CN239314
•
Disease or Syndrome
Synonyms: CEP290-related condition; CEP290-Related Disorders

Professional guidelines

PubMed

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. PMID: 20683928Free PMC Article

Recent clinical studies

Etiology

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F
Invest Ophthalmol Vis Sci 2021 Jul 1;62(9):1. doi: 10.1167/iovs.62.9.1. PMID: 34196655Free PMC Article
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

A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.
Chen BB, Zhai Y, Huo YN, Yang S, Zhang ZY
Ophthalmic Genet 2022 Feb;43(1):97-103. Epub 2021 Nov 23 doi: 10.1080/13816810.2021.2004431. PMID: 34809537
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F
Invest Ophthalmol Vis Sci 2021 Jul 1;62(9):1. doi: 10.1167/iovs.62.9.1. PMID: 34196655Free PMC Article
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
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. PMID: 20683928Free PMC Article

Prognosis

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F
Invest Ophthalmol Vis Sci 2021 Jul 1;62(9):1. doi: 10.1167/iovs.62.9.1. PMID: 34196655Free PMC Article
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 of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F
Invest Ophthalmol Vis Sci 2021 Jul 1;62(9):1. doi: 10.1167/iovs.62.9.1. PMID: 34196655Free 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

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