Fifteen-year hunt uncovers gene behind 'pseudothalidomide' syndrome

members. "We knew it would be really important to find the gene, but it just wasn't practical at that time."

A few years later, in 1995, two Colombian geneticists started their quest to fully understand Roberts syndrome. Without their push, the gene for Roberts might still be unknown.

Colombian Hugo Vega had noticed an unusual number of patients with Roberts syndrome in the clinic at the University of Bogot. Fairly quickly, he tracked down seven families with Roberts syndrome in two villages outside Bogot. Four of the families share an 18th-century ancestor, he and Miriam Gordillo, then an undergraduate, discovered.

"The families have really collaborated with us, they've worked with us quite closely to help us uncover the gene behind the syndrome," says Gordillo. "Now we have about 10 affected families from outside Bogot, and we can offer a genetic test to families at risk of Roberts syndrome."

Vega and Gordillo, a husband-and-wife team, criss-crossed the globe to continue their work and find better funding opportunities. In Japan, Vega tied the Colombian families' syndrome to a large region of chromosome 8. In The Netherlands, a post-9/11 detour, he added to his analysis samples from Turkish and Italian families with Roberts syndrome.

In 2004, Gordillo got a student visa to work with Jabs and to study for her doctorate in human genetics at Johns Hopkins. Over the past year, Gordillo analyzed the chromosome 8 region in samples from 15 families (consisting of 18 affected members and 33 unaffected members) and tied the condition to one of 6 genes.

Then, the international team compared the human sequence of the genes to those from chimpanzee, mouse, rat, chicken and zebrafish, and to the gene sequences of the affected family members. One segment of a gene called ESCO2 that was identical in all the animals contained changes that disrupted the gene's protein-making instructions in people with the syndrome. Knocking out th

Contact: Joanna Downer
Johns Hopkins Medical Institutions

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