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Article

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

American journal of human genetics - 1 Sept 2006

den Hollander Anneke I, Koenekoop Robert K, Yzer Suzanne, Lopez Irma, Arends Maarten L, Voesenek Krysta E J, Zonneveld Marijke N, Strom Tim M, Meitinger Thomas, Brunner Han G, Hoyng Carel B, van den Born L Ingeborgh, Rohrschneider Klaus, Cremers Frans P M

Abstract excerpt

Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for approximately 45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a...

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Identifiers

PMID: 16909394
DOI: 10.1086/507318
PMCID: PMC1559533

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16909394-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.PMID 16909394Read ↗

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

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

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Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.Semantic proximity Read ↗

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

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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.Semantic proximity Read ↗

The role of alternative splicing in CEP290-related disease pathogenesisSemantic proximity Read ↗

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Semantic proximity Read ↗

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

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