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A Clear Picture: Decades-Old IMAGe Syndrome Mystery Cracked


Since its discovery nearly 20 years ago, the cause of IMAGe syndrome, a rare disorder that causes stunted growth in babies, has remained a mystery. But now the search for that elusive answer has come to a successful end, thanks to UCLA geneticists.

IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities) syndrome is a rare complex disorder characterized by retarded fetal growth, stunted bone growth, underdeveloped adrenal glands and genital abnormalities. If not recognized and treated early with hormone-replacement therapy, the disorder may prove fatal due to poor adrenal activity.

It was in 1993 that Eric Vilain first identified the IMAGe syndrome in two boys, aged 3 and 6, when he was a medical resident in France. Though, over the next decade, about 20 cases were reported around the world, the cause of the disorder had remained elusive.

Vilain, who is now a professor of human genetics, pediatrics and urology at the David Geffen School of Medicine at UCLA , along with a team of UCLA researchers, have now found that the IMAGe syndrome is caused by a mutation of a gene known as CDKN1C, found on chromosome 11.

What is interesting is that the mutation responsible for the IMAGe syndrome that stunts infants' growth occurs on the same gene that is associated with an 'overgrowth' disorder called Beckwith-Wiedemann syndrome.

The finding has come as a surprise to the researchers because IMAGe syndrome and Beckwith-Wiedemann syndrome are polar opposites of each other.

Note that children born with Beckwith-Wiedemann syndrome grow very large, with big adrenal glands, elongated bones and oversized internal organs. Because their cells grow so fast, they have an increased risk for childhood tumors.

Commenting on the finding, Vilain said. "This was a big step forward. Now we can use gene sequencing as a tool to screen for the disease and diagnose children early enough for them to benefit from medical intervention".

The study was published online May 27 in the journal Nature Genetics.

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