Researchers Discover Gene for Rare Skin Disorder

Researchers funded in part by the National Institutes of Health have identified the gene that accounts for most cases of Goltz syndrome, a rare skin disorder that can also affect bone and eye development.

The cases appear to result from a defect in the gene known as PORCN, which contains the information needed to make a protein, referred to by researchers as porcupine.

The Porcupine protein, which was first identified in fruit flies, was named for the pattern of spikes projecting from skin cells of the larval fly's body, bearing a resemblance to the quills of a porcupine.

The researchers believe mutations in the PORCN gene cause at least 75 percent of Goltz syndrome cases.

The study was lead jointly by Xiaoling Wang, Department of Obstetrics and Gynecology at Baylor College of Medicine, and V. Reid Sutton, Department of Molecular and Human Genetics at Baylor College of Medicine.

The findings were published online in "Nature Genetics".

Goltz syndrome, also called focal dermal hypoplasia, causes a distinctive red rash and thinning of the skin, which allows fat from the tissue below to protrude and form small yellowish-white lumps.

The PORCN gene is active in the embryo and fetus, creating proteins important in the development of the skin, skeleton, and eyes - all affected in the disorder.

"The findings are important because they offer insight into a developmental disorder that was previously little understood," said Ljubisa Vitkovic, M.D., of NICHD's Mental Retardation and Developmental Disabilities Branch. "But they also illustrate how a mutation in the human counterpart of a protein known to regulate development in flies and mice can affect the skin and other human organs."