Hopkins researchers find genetic cause for multi-system disorder

Faulty cell communication is at the root of a complex and rare disorder that affects many of the body's structures and systems, including the eyes, face, teeth, fingers and toes, a Hopkins-led research team has discovered.

Studying genetic samples and medical histories from 17 families with the syndrome, known as oculodentodigital dysplasia, the scientists discovered that changes in a gene called connexin 43 are to blame for the disorder, which also can include hearing loss, heart trouble and neurological problems. The findings, published online ahead of print, will appear in the February issue of the American Journal of Human Genetics.

"It's pretty amazing that it's taken so long to link a connexin gene to a disorder that affects so many of the body's systems," says Ethylin Jabs, M.D., director of Hopkins' Center for Craniofacial Development and Disorders and a member of the school's McKusick-Nathans Institute for Genetic Medicine. "Connexin 43 and related genes are present in many tissues during development, but until now problems with connexins had only been tied to simpler manifestations."

A family of roughly 20 genes, connexins are best known for creating connections between cells, bridging space called a "gap junction," notes lead author William Paznekas. When connexins on one cell interact with connexins on a neighboring cell, the result is a direct line of communication. The researchers emphasize that other genes -- possibly even other connexins or environmental factors likely account for the variety of effects seen in patients.

Since connexin 43 is turned on in fetal development in a pattern that reflects the problems seen in oculodentodigital dysplasia, the scientists suspected its involvement in the disorder. They determined the sequence of its building blocks in affected and unaffected members of 17 families in the United States, the Netherlands, Norway and Turkey, and in 100 additional people. Only people with the

Contact: Joanna Downer
Johns Hopkins Medical Institutions

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