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Genes may be responsible for cleft lip and palate

Genes may have more to do with the formation of cleft lip and palate than previously thought, EU-funded scientists have discovered. Their study, published in the journal Nature Genetics, was funded by the EUROCRAN ('European collaboration on craniofacial anomalies') project, w...

Genes may have more to do with the formation of cleft lip and palate than previously thought, EU-funded scientists have discovered. Their study, published in the journal Nature Genetics, was funded by the EUROCRAN ('European collaboration on craniofacial anomalies') project, which was supported under the 'Quality of life and management of living resources' programme of the Fifth Framework Programme (FP5). Researchers studying the distressing condition that occurs worldwide, and in particular affects 1 in 700 babies in central Europe, compared 500,000 DNA samples from 460 people suffering from cleft lip or palate. The findings revealed that a genetic variant of chromosome 8 (one of the 23 pairs of chromosomes in humans) occurred far more frequently in people with the condition than in a control group. Cleft palate or cleft lip can occur together or separately. The condition - all too often known by the offensive term 'hare lip' - is highly distressing for both parents and child. In many countries, children suffering from this condition are still frequently stigmatised and ostracised. The condition occurs when the tissue-fusing process in the face and mouth do not work properly before birth. The baby is then born with a gap between his or her lip, jaw and sometimes the palate; this gap can be corrected by surgery. It is believed that both environmental and genetic factors are responsible for the formation of cleft lip and palate, but the University of Bonn research could mean that genes play a more important role in the process than previously believed. Lead researcher Dr Elisabeth Mangold, a lecturer from the Institute of Human Genetics at the University of Bonn in Germany, said, 'This is a notable clue that a gene located in this region has something to do with the occurrence of clefts. 'Without this genetic factor of chromosome 8, the probability of a child in our population getting clefts would be significantly less than 1 in 700. In effect, this is good for all mothers of the children affected, who always thought, "I must have done something wrong when I was pregnant." You just can't help having the genes you have got.' Research will now continue to find out which gene in chromosome 8 is responsible and how the process works. 'This could indeed be what is known as a regulatory element that controls other genes,' commented Dr Mangold. Once the research has ascertained which genes are involved in the formation of cleft lip and palate as well as how they interact with environmental factors, scientists will be able to decide if taking particular vitamins during pregnancy can counteract the formation of the condition. There are already indications that this could be the case.

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