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[ Gene For Branchio-Oculo-Facial Syndrome Discovered By Researchers ]

Gene For Branchio-Oculo-Facial Syndrome Discovered By Researchers

In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS). This rare disorder is characterized by specific skin anomalies involving the neck and behind the ear, eye abnormalities, a typical facial appearance, and frequently cleft lip and palate. The study currently appears on-line in the April 17th issue of the American Journal of Human Genetics. Using the latest in molecular microarray technologies, the researchers examined one affected mother and son and two sporadic BOFS cases and found a small deletion on chromosome 6 in the mother and son. Sequencing of genes in this candidate region revealed missense mutations clustered in the basic region of the DNA-binding domain of the TFAP2A gene in 4 sporadic BOFS patients.

Research Findings Change The Way Doctors Perform Cleft Palate Surgery

Research by Dr. Damir Matic, a scientist with Lawson Health Research Institute in London, Ontario is changing the way cleft palate surgeries are performed throughout North America and around the world. Matic has been conducting research to determine the optimal time to close the gum tissue of cleft palate patients. His research suggests that it is best to wait until the child is older. Matic is a craniofacial/plastic surgeon at London Health Sciences Centre and a professor in the department of surgery at the Schulich School of Medicine & Dentistry at The University of Western Ontario. Surgical timing has been a controversial topic with various cleft centers around the world opting for early closure at about 3-6 months of age. However, Matic, using research complied over the past 20 years has shown that the best time to close the cleft at the alveolus (gum) in patients with either one or two sided clefts is at eight or nine years of age prior to canine tooth eruption.

California Legislature Takes Up Multiple Health Care Bills

"More than a dozen health bills are advancing through the [California] Legislature, " some of which contain elements of a health care overhaul plan backed by Gov. Arnold Schwarzenegger (R) that passed the state Assembly but was rejected in the Senate earlier this year, the Los Angeles Times reports. Support for the bills among Republicans who opposed Schwarzenegger's plan is "a sign that a desire for piecemeal health care changes is strong this election year, " according to the Times. Schwarzenegger's health care proposal in large part was rejected because it would have cost $14.9 billion at a time when the state faced a large deficit, but the bills gaining initial approval in the Legislature "now put most of their costs on the health care industry, " the Times reports. Bills being considered include measures that would require insurers to: Spend a minimum of 85% of premiums on patient care;

Alcohol Binges Early In Pregnancy Increase Risk Of Infant Oral Clefts

A new study by researchers at the National Institute of Environmental Health Sciences (NIEHS), part of the National Institutes of Health, shows that pregnant women who binge drink early in their pregnancy increase the likelihood that their babies will be born with oral clefts. The researchers found that women who consumed an average of five or more drinks per sitting were more than twice as likely than non-drinkers to have an infant with either of the two major infant oral clefts: cleft lip with or without cleft palate, or cleft palate alone. Women who drank at this level on three or more occasions during the first trimester were three times as likely to have infants born with oral clefts. "These findings reinforce the fact that women should not drink alcohol during pregnancy, " said Lisa A.

Alternate Pathway That Leads To Palate Development

Researchers at the University Of Southern California School Of Dentistry have uncovered another clue behind the causes of cleft palate and the process that leads to palate formation. Cleft palate is one of the most common congenital birth defects, occurring in one out of every 700 live births. Clefts are more common in children of American Indian, Hispanic or Asian descent. While males are twice as likely to have a cleft lip, females are twice as likely to have a cleft palate. But genes are not the only factor influencing the malformation says, Yang Chai, professor and director of the USC School of Dentistry's Center for Craniofacial Molecular Biology. Researchers around the world believe that most cases of cleft lip and cleft palate are caused by an interaction of genetic and environmental factors;

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