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

✍ Scribed by Frauke Coppieters; Steve Lefever; Bart P. Leroy; Elfride De Baere

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
392 KB
Volume
31
Category
Article
ISSN
1059-7794

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✦ Synopsis

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, in which mutations 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-Gru ¨ber 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 that 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 locusspecific mutation database that links mutations with patients and their phenotypes (medgen.ugent.be/cep290base).

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