New research identifies new genes associated with cleft lip and cleft palate in children

An international collaborative research team, including researchers from Trinity College Dublin and the Health Research Board (HRB) in Ireland, have discovered important genes associated with cleft lip in children.? The Genome Wide Association Study (GWAS), led by Dr Terri H. Beaty of the Johns Hopkins University and four of the National Institutes of Health (NIH) in the USA? (NIEHS, NICHD, NIDCR and NHGRI) was published online (May 2nd) in the leading international science journal, Nature Genetics.

Dr Anne Molloy (Clinical Medicine) and Professor John Scott (Biochemistry and Immunology) of TCD, and Dr Peadar Kirke (formerly of the HRB) along with collaborators in the NIH, provided data for a set of Irish affected families that confirmed previously unidentified genes (MAFB and ABCA4) and several recently identified genomic regions in chromosome 8q24 and IRF6 by the Genome Wide Association Study. The researchers hope to follow up this research in a separate study of cleft palate only, of which there is also a large Irish sample collection.

Cleft lip and palate are among the most common congenital birth defects world-wide and are estimated to affect approximately 1 in 700 children born in Ireland.? Cleft lip and cleft palate can occur together or separately in a child. A combination of genetic and environmental factors seems to be involved in the expression of these conditions and one important research goal is to map the genes involved. Such studies require very large numbers and also require the generosity of groups that contribute samples. In total, more than 3,500 affected families around the world were included in the study. Although Ireland is a small country it provided one of the largest groups of case families in the study.

The research team are particularly grateful to the patients and families who participated, the Cleft Lip and Palate Association of Ireland, the Dublin Cleft Centre Team with their consultants Drs Michael Earley, David Orr and Eamon McKiernan.