Singapore: Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and the US, have identified the genetic cause of a birth defect known as Hamamy syndrome. Their groundbreaking findings were published on May 13 in Nature Genetics. The work lends new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility.

Hamamy syndrome is a rare genetic disorder that is marked by abnormal facial features (Annex A) and defects in the heart, bone, blood and reproductive cells. Its exact cause was unknown until now. The international team, led by scientists at IMB, have pinpointed the genetic mistake to be a mutation in a single gene called IRX5.

This is the first time that a mutation in IRX5 (and the family of IRX genes) has ever been discovered in man. IRX5 is part of a family of transcription factors that is highly conserved in all animals, meaning that this gene is present not only in humans but also in mice, fish, frogs, flies and even worms. Using a frog model, the scientists demonstrated that IRx5 orchestrates cell movements in the developing fetus that underlie head and gonad formation.