The newly identified LCA gene,CEP290

Here’s the information I’ve been dying to have since Dr. Koenekoop was so kind to tell me that a new LCA gene had been found, and that I carried it!
Thanks to my wonderful friend Céline, who is a genetist and knows all about this stuff, I got ahold of this precious information which appears on the website of the American Journal of Human Genetics, due for publication in September.

I’m pasting the abstract of the article as it is. It’s highly technical but it all sounds so exciting!

Fran
The American Journal of Human Genetics Volume 79 September 2006

REPORT

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

den Hollander AI, Koenekoop RK, Yzer S, et al

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 ~45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290). The defect is caused by an intronic mutation (c.2991+1655° r G) that creates a strong splice-donor site and inserts a cryptic exon in the CEP290 messenger RNA. This mutation was detected in 16 (21%) of 76 unrelated patients with LCA, either homozygously or in combination with a second deleterious mutation on the other allele. CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far.