Mutations Lead to Retinitis Pigmentosa
By Biotechdaily staff writers
Posted on 28 Oct 2003
Researchers investigating the genetic linkages that determine the inheritance of retinitis pigmentosa have found two gene mutations that produce distinct retinitis pigmentosa phenotypes.Posted on 28 Oct 2003
The investigators, at McGill University (Montreal, Canada), performed full ophthalmic evaluations and linkage analysis and then determined the likelihood of odds scores (LOD score) for 15 members of one French-Canadian family and for three members of a second family. The two families had been afflicted with retinitis pigmentosa for four generations. Results were published in the October 2003 issue of the American Journal of Ophthalmology.
Two novel mutations were identified in the two families; a Glu 414 (2-bp del) frameshift mutation in the first family and an IVS 2–1 (g to a) splice site mutation in the second. These mutations resulted in variable, severe forms of the disease and in some cases other neurologic disorders, such as hearing loss.
"Our findings show that different gene mutations result in different symptoms of the disease,” explained senior author Dr. Guy Rouleau, a geneticist at McGill University. "Our study will provide hope to those families who have suffered from this disease for generations and will lead to new screening and diagnostic tests.”
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