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CSHL scientists use next-gen sequencing to rapidly discover genetic cause of devastating disorder
Date:1/13/2010

Cold Spring Harbor, N.Y. Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.

The study was published in collaboration with Dor Yeshorim, a non-profit organization offering premarital genetic disease carrier-screening primarily to the Orthodox Jewish community, and with a research group led by Dr. Orly Elpeleg at Hebrew University Medical Center, Israel. It appears in the January 8th issue of the American Journal of Human Genetics.

The mutation, in a gene called TMEM216, causes a single letter of the DNA alphabet to be replaced by another. Individuals who carry the mutation in copies of the gene inherited from both parents develop diverse and devastating pathologies. These include malformation of a brain region, delay in development, poor muscle coordination, visual impairment and growth of extra digits.

"This discovery makes it possible to prevent JBTS within this population by screening individuals for the mutation," said CSHL Professor and HHMI investigator Greg Hannon, one of the authors of the study. At the request of families of patients with JBTS, the study was initiated by Dor Yeshorim, which has already made available screening for the JBTS mutation.

Participants who undergo genetic screening are not given the screen's results, only an identification number. When a couple considers marriage, both partners submit their identification numbers. If both are carriers of the mutation, they are deemed incompatible and are so informed. "Asymptomatic carriers will thus be able to avoid passing the condition to their future children unknowingly," says Hannon.

JBTS has previously been linked to mutations in nine genes, but none
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Contact: Hema Bashyam
bashyam@cshl.edu
516-367-6822
Cold Spring Harbor Laboratory
Source:Eurekalert

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