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Article

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Human mutation - 1 Apr 2007

Perrault Isabelle, Delphin Nathalie, Hanein Sylvain, Gerber Sylvie, Dufier Jean-Louis, Roche Olivier, Defoort-Dhellemmes Sabine, Dollfus Hélène, Fazzi Elisa, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel

Abstract excerpt

Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration responsible for congenital blindness. Hitherto, 13 LCA genes have been mapped, nine of which have been identified. Recently, mutations in the NPHP6/CEP290 gene were shown to account for Joubert and Senior-Loken...

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Identifiers

PMID: 17345604
DOI: 10.1002/humu.9485

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17345604-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.PMID 17345604Read ↗

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.Semantic proximity Read ↗

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Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.Semantic proximity Read ↗

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.Semantic proximity Read ↗

CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.Semantic proximity Read ↗

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).Semantic proximity Read ↗

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Semantic proximity Read ↗

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.Semantic proximity Read ↗

A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.Semantic proximity Read ↗

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.Semantic proximity Read ↗

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.Semantic proximity Read ↗

Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.Semantic proximity Read ↗

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