Genes Identified in Cleft Lip and Palate

BETHESDA, Md., May 3 (UPI) — A U.S. consortium of scientists says it has identified two genes that, when inherited in a mutated form, may play a role in causing cleft lip and/or palate.

The scientists said their findings are unique in the study of congenital malformations because of how they were made. They came from the largest genome-wide association study to date on cleft lip and/or palate. Such studies allow researchers to survey the DNA of people with a shared condition to measure hundreds of thousands of different points across the genome that can be indicative of a nearby gene alteration.


By working as a consortium and involving more than 1,900 families from eight countries, the authors said they were able to detect variations close to genes called MAFB and ABCA4. The researchers said variations suggest altered forms of those genes might be related to clefting. As is standard in genome-wide association studies, the findings were replicated by studying 1,965 more affected families from 12 countries — a total of 8,115 people.

The National Institutes of Health project is reported in the early online edition of the journal Nature Genetics.

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