Detailed genetic examination of cleft lip and palate abnormalities

New Study Uncovers Genetic Regions Linked to Cleft Lip and Palate

A groundbreaking study, led by the University of Bonn, has shed light on the genetic causes of cleft lip and palate. The research, published in the journal Human Genetics and Genomics Advances, has identified five new regions in the human genome where variations in the DNA sequence are associated with an increased risk of malformation.

Dr. Kerstin U. Ludwig, the Emmy-Noether Group Leader for the study, spearheaded the collaborative effort involving universities in Manchester, Cologne, Pittsburgh, Connecticut, Johns Hopkins University in Baltimore, Emory University in Atlanta, and the University of Cantabria. Dr. Julia Welzenbach from the University of Bonn was also part of the study.

The study's findings reveal that a total of 45 such risk regions are now known. Some of these newly discovered risk regions have been shown to affect specific genes, providing valuable insights into the complex genetic basis of cleft lip and palate.

Cleft lip and palate is one of the most common congenital malformations, and its causes are mainly genetic. The study's results could pave the way for more targeted treatments and preventive measures in the future.

Part of the non-coding DNA serves to regulate the activity of genes. Some regulatory DNA sequences are known to act as silencers or enhancers during early facial development of the embryo. The researchers combined various data sources in their work to uncover these new regions.

The study was funded by the German Research Foundation (DFG, LU 1944-3/1). The University of Bonn is currently researching together with other institutions to identify new gene regions in the human genome associated with an increased risk of cleft lip and palate, with the Collaborative Research Center (CRC) 1140 "Molecular Mechanisms of Repair and Regeneration in Degenerative Diseases of the Nervous System" involved in this work.

For more information, Dr. Kerstin U. Ludwig can be contacted at +49-228-6885420 or [email protected], and Dr. Julia Welzenbach can be reached at +49-228-6885435 or [email protected]. The publication's DOI is 10.1016/j.xhgg.2021.100038.