National Institutes of Health (NIH): 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? body, bearing a resemblance to the quills of a porcupine.