Discovery of a genetic cause of inherited vision loss

Roosing Susanne

Researchers of the Departments of Human Genetics and Ophthalmology describe in the top genetic journal the 'American Journal of Human Genetics' the use of next -generation sequencing to identify the genetic cause of an inherited eye disorder, cone-rod dystrophy. In patients with cone-rod dystrophy the cone photoreceptor cells degenerate, which leads to disturbances in sharp vision and in perceiving colors. At a later stage the rods photoreceptors also degenerate, which can lead to severe visual impairment or blindness.

The discovery was done in a family with three brothers and sisters with a recessive form of cone-rod dystrophy. The research team made use of exome sequencing, a large-scale DNA sequencing method which allows the simultaneous analysis of all genes in the genome. The causal gene defect in the three brothers and sisters was located in theRAB28gene. A large international collaboration enabled the researchers to identify causative mutations inRAB28in two families.

The involvement of RAB28 in cone-rod dystrophy opens a whole new research field. The researchers believe that RAB28 may play a role in transport processes in the rods and cones. Possibly also other RAB protein family members may be involved in inherited visual impairment.

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

Susanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, Dror Sharon, Nicole Weisschuh,Jennifer Staller, Susanne Kohl, Lina Zelinger, Theo A. Peters,Kornelia Neveling, Tim M. Strom, European Retinal Disease Consortium, L. Ingeborgh van den Born,Carel B. Hoyng, Caroline C.W. Klaver, Ronald Roepman,Bernd Wissinger, Eyal Banin, Frans P.M. Cremers, Anneke I. den Hollander.

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