OMIM: 204000Inheritance: Autosomal recessive
Classification: Diseases of the eye and adnexa
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CEP290 |
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| Dna Change: | c.4723A>T |
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| Protein Change: | p.Lys1575X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 36 |
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| Transcript: | NM_025114.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | Lille | 7 families | NA | Perrault I et al., 2007Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM, . Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.. Hum. Mutat.. 2007; 28(4):416 |
References
Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM, Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.Hum. Mutat.. 2007; 28(4):416