Researchers identify gene causing rare form of cleft palate

The identification of a gene that causes a rare form of the congenital defect, cleft palate, may offer an important insight into human development and the mechanisms involved in the condition.

Researchers led by Dr Philip Stanier from Imperial College have found that the sex-linked form of cleft palate (CPX) and an associated form of the disorder known as tongue-tie are caused by mutations in a gene called T-box 22. (Refer to note to editors)

The study published online today in the journal Nature Genetics follows extensive genetic analysis of family pedigrees from diverse ethnic backgrounds over the past 14 years.

Dr Philip Stanier from the Institute of Reproductive and Developmental Biology at Imperial Colleges Hammersmith campus, said: "This discovery enables us to investigate the role of a major genetic determinant required for normal palate formation and to identify other mutations that may also play roles in more common forms of the disorder."

Cleft palate is a birth defect affecting 1/1500 births as a result of malformation of the palate during key stages of pregnancy. Children born with the condition have problems with feeding, speech, hearing and psychological development and require corrective surgery involving a wide range of paediatric expertises.

"Despite the high prevalence of cleft palate little is known about the underlying causes," Dr Stanier explains: "In part, this is because most clefts arise through the disturbance to a complex but poorly understood balance between genes and the environment. The sex-linked form of cleft palate, CPX, has minimal influences from environmental factors making is easier to identify the genetic basis for this disorder."

Using data collected from Icelandic, Brazilian, Canadian and Native American families the genetic technique of positional cloning was used to identify the region on the chromosome where the gene for CXP might be (Nature 1987: 326, 91-92). Recent

Contact: Judith Moore
Imperial College London

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