Cleft palate gene found

Researchers studied DNA from an Icelandic family

Scientists have identified the gene that causes cleft palate, in a finding that could improve the diagnosis and treatment of the congenital disorder.

About one in 600 babies are born with cleft palate in which the two sides of the roof of the mouth do not fuse properly.

Children born with the condition have problems with feeding, speech, hearing, and psychological development, and require corrective surgery.

Researchers at Imperial College London found that the sex-linked form of cleft palate, known as CPX, and an associated disorder called "tongue-tie" are due to mutations in the T-box 22 gene.

The identification of this gene will help researchers to understand what causes seemingly random cases of cleft palate

Professor Michael Patton, Birth Defects Charity

Dr Philip Stanier, the head of the research team, said: "By identifying the gene that causes X-linked cleft palate we will now understand much more about the cause of the condition.

"In the long term it will also shed more light on other forms of the disorder and lead to effective treatments other than corrective surgery."

The gene may also help scientists uncover a link between inherited cases of the disorder and those that occur sporadically.

The search for the gene began with a study in the 1980s of seven generations of an Icelandic family with the problem.

The researchers said it was quite easy to spot the gene because of the country's small genetic pool and its well-organised medical records.

'Prenatal therapies'

They compared DNA taken from blood samples from the Icelandic family with DNA from people in Canada, Brazil and Britain.

About one in 600 babies are born with cleft palate

Information from the Human Genome Project conducted at the Sanger Centre in Cambridgeshire helped the scientists narrow the search down to three candidate genes not previously implicated in human diseases.

A number of different mutations were spotted in one of the genes, T-box 22, which would have a catastrophic effect on the way the gene functioned.

The research was funded by the Birth Defects Foundation (BDF) charity based in Cannock, Staffordshire.

Professor Michael Patton, BDF's Medical Director, said: "This will mean real improvements as it will now be possible for doctors to make a prenatal diagnosis of the inherited form of cleft palate in families carrying this X-linked condition.

"It is also possible that the identification of this gene will help researchers to understand what causes seemingly random cases of cleft palate and aid in the development of prenatal therapies to combat the disorder."