CEP290, a gene with many faces: mutation overview and presentation of CEP290base

Frauke Coppieters (1) , Steve Lefever (1) , Bart P. Leroy (1, 2) , Elfride Bw de Baere (1)

1 Center for Medical Genetics [Ghent]
2 Department of Ophthalmology

Ciliopathies are an emerging group of disorders, caused by mutations in ciliary genes. One of the most intriguing disease genes associated with ciliopathies is CEP290, mutations in which cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS) to the lethal Meckel-Grüber syndrome (MKS). Despite the identification of over 100 unique CEP290 mutations, no clear genotype-phenotype correlations could yet be established and consequently the predictive power of a CEP290-related genotype remains limited. One of the challenges is a better understanding of second-site modifiers. In this respect, there is a growing interest in the potential modifying effects of variations in genes encoding other members of the ciliary proteome which interact with CEP290. Here, we provide an overview of all CEP290 mutations identified so far, with their associated phenotypes. To this end, we developed CEP290base, a locus-specific mutation database that links mutations with patients and their phenotypes (medgen.ugent.be/cep290base).

Mots clés: Life Sciences

Frauke Coppieters, Steve Lefever, Bart P. Leroy, Elfride Bw de Baere. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Human Mutation, 2010, 31 (10), pp.1097. ⟨10.1002/humu.21337⟩. ⟨hal-00563445⟩