Cleft lip and palate is one of the most common congenital malformations. Its causes are mainly genetic. However, it is still largely unknown exactly which genes are affected. A new international study led by the University of Bonn now provides new insights. The results were published in the July 8, 2021 issue of Human Genetics and Genomics Advances. The open-access article is titled “Integrative Approaches Generate Insights into the Architecture of Non-Syndromic Cleft Lip with or without Cleft Palate.”
The researchers from the Institute of Human Genetics at the University Hospital Bonn combined various data sources in their work. In the course of their research, they discovered five new regions in the human genome in which variations in the DNA sequence are associated with an increased risk of malformation. A total of 45 such risk regions are now known. For some of them, the researchers were also able to show which genes are affected by these changes. "Our results provide new insights into the development of the disease, but also into the development of the face in the early embryo as a whole," explains Dr. Kerstin Ludwig (photo).