Scientists Confirm Link Between Missing X-Chromosome DNA and Birth Defects

In 2010, scientists in Italy reported that a woman and her daughter showed a puzzling array of disabilities, including epilepsy and cleft palate. The mother had previously lost a 15-day-old son to respiratory failure, and the research team noted that the mother and daughter were missing a large chunk of DNA on their X chromosome. But the researchers were unable to definitively show that the problems were tied to that genetic deletion. Now a team from the University of Pennsylvania (Penn) and The Children’s Hospital of Philadelphia (CHOP) has confirmed that those patients’ ailments resulted from the genetic anomaly. Creating mice that lacked the same region of DNA, the Penn and CHOP researchers showed that these animals suffered the same problems that afflicted the mother, daughter and son — cleft palate, epilepsy and respiratory difficulties, a condition called human Xq22.1 deletion syndrome. And, by clarifying the syndrome’s genetic basis, the researchers have laid the foundation for identifying the underlying molecular mechanism of these troubles and potentially treating them at their biological root. “This study has demonstrated that deleting this region in mice causes them to respond like humans with the same deletion,” said Dr. P. Jeremy Wang, senior author on the study and professor in the Penn School of Veterinary Medicine’s Department of Animal Biology. “Now that we have a mouse model, we can dissect and try to genetically pinpoint which genes are responsible.” Dr. Wang co-led the study with his postdoctoral researcher Dr. Jian Zhou. Additional coauthors included Penn Vet’s Dr. N. Adrian Leu and CHOP’s Drs. Ethan Goldberg, Lei Zhou and Douglas Coulter. The study appears online on February 25, 2014 in the journal Human Molecular Genetics.
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