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A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290.

ABSTRACT: CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, discovered in a patient suffering from retinitis pigmentosa using massive parallel sequencing of a molecular inversion probes library constructed for 108 genes involved in IRDs. A milder phenotype than expected was found in the individual, which serves to prove that some CEP290-associated disorders may display preserved cone function.

SUBMITTER: Rafalska A

PROVIDER: S-EPMC7690422 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290.

Rafalska Agnieszka A Tracewska Anna M AM Turno-Kręcicka Anna A Szafraniec Milena J MJ Misiuk-Hojło Marta M

Genes 20201022 11

CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, ...[more]

PMID: 33105651

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