Disease that Stunts Infants’ Growth Traced to Same Gene that Makes Kids Grow too Fast
Discovery ends UCLA scientist’s 20-year quest for cause of IMAGe syndrome
The Caterpillar got down off the mushroom … remarking as it went, ‘One side will make you grow taller, and the other side will make you grow shorter.’
—Lewis Carroll, “Alice’s Adventures in Wonderland”
UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants’ growth. The twist? The mutation occurs on the same gene that causes Beckwith–Wiedemann syndrome, which makes cells grow too fast, leading to very large children.
Published in the May 27 edition of the journal Nature Genetics, the UCLA findings could lead to new ways of blocking the rapid cell division that allows tumors to grow unchecked. The discovery also offers a new tool for diagnosing children with IMAGe syndrome, which until now has been difficult to identify accurately. (more…)