Roughly one in 300 people are carriers of short-rib polydactyly syndrome. The foetus develops extra fingers and toes and its skeleton doesn’t grow, resulting in stunted ribs that prevent the lungs from maturing in the womb. The foetus is unable to grow on its own the child dies shortly after birth. After 12 years of searching, UCLA scientists have tracked down the first known gene mutation responsible for this syndrome. Parents must currently wait until the second trimester of pregnancy for a diagnosis. Now that the genetic basis of the disease has been found, parents will be able to obtain a prenatal diagnosis within about 12 weeks. Parents will also be able to screen embryos conceived in vitro to help select those free of the genetic mutation before uterine implantation.
In the UCLA study, the research team identified a DNA sequence shared by all three infants from a single family that died of short-rib polydactyly syndrome. This directed the scientists to a chromosomal location they suspected of housing the disease-causing gene. After narrowing the search to three identical regions on the genome, Krakow zeroed in on one. Not only did they identify the mutation in the initial family that lost three children, but also confirmed its presence in two other families whose infants also died of the disease. This disease however is caused by multiple genes, not just one. The next step for the research is to seek out other genes that contribute to short-rib polydactyly syndrome and uncover how these factors interact to cause the disorder.
Source:
http://www.sciencedaily.com/releases/2009/04/090401134413.htm
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