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Gene clue to inherited form of cleft palate

2 September 2002
By BioNews
Appeared in BioNews 173

Scientists have discovered a gene that is responsible for an inherited form of cleft lip and palate. A pair of twins born in Brazil were found to be genetically identical, but a doctor noticed that one of them had been born with a cleft palate, while the other had not.

The twin with the cleft palate has Van der Woude syndrome (VWS), a condition which, because of its pattern of inheritance, was already thought to be caused by a mutation on a single gene. But the gene responsible had not yet been identified.

The scientists realised that the gene mutation that caused the VWS in one of the twins must have happened after the embryo naturally split in two. Scientists had been looking for the genetic link to VWS for many years. Now, those involved in the search, a collaboration from the Manchester University in the UK and the University of Iowa in the US, have identified the gene as IRF6. They were able to find the mutation by simply comparing the genetic make-up of the twins, using data collected from the Human Genome Project.

Cleft lip and palate gene identified
BBC News Online |  1 September 2002
Gene causing cleft lips identified
The Guardian |  2 September 2002
Remarkable twins give clue to cleft palates
New Scientist |  1 September 2002
5 December 2011 - by Rosemary Paxman 
Scientists have genetically repaired cleft lip and palate in mouse embryos in a breakthrough that could pave the way for new treatments of the common birth defects in humans...
25 September 2006 - by Laura Goodall 
A developmental gene has been found to provide a connection between several genes involved in the formation of a cleft lip and palate. Researchers at Brigham and Women's Hospital and Harvard Medical School in Massachusetts, US found that when the gene SUMO1 is under-expressed and does not...
20 August 2004 - by BioNews 
A new genetic test could allow doctors to identify people at risk of having a second child with a cleft lip or palate. Researchers at the University of Iowa in the US found that variations in a particular gene are linked to a three-fold increased risk of the condition recurring...
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