Researchers Find Combined Effects of Two Genes Responsible for Premature Skull Fusion In Infants

During the first year of life, the human brain doubles in size, and continues expanding through adolescence. The loosely connected bony plates of the young skull accommodate this growth. But sometimes, these bones fuse too early, a disorder known as craniosynostosis. This disorder can produce facial and skull deformities, and, in some cases, put potentially damaging constraints on a young brain..A research team led by Rockefeller University President Richard P. Lifton has identified mutations responsible for a type of craniosynostosis that affects the joining of bones along the top of an infant’s skull. The results were published online on September 8, 2016 in eLife. The open-access article is titled “Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles.” In one type of midline craniosynostosis, the two plates at the front of an infant’s head fuse before they should, forming a boney ridge down the forehead. In addition to skull abnormalities, this condition can lead to neurodevelopmental problems. “This discovery will lead to new ways to diagnose this disorder, as well as help to counsel couples at risk of passing it on to their children. It also has much broader relevance for understanding the genetics of complex traits, including many human diseases,” says Dr. Lifton, who is head of Rockefeller’s Laboratory of Human Genetics and Genomics and was a Howard Hughes Medical Institute investigator prior to moving to Rockefeller. The research took place at Yale University, where Dr. Lifton was formerly Sterling Professor of Genetics. Dr. Lifton and his team at Yale, including Dr.
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