Gene for Goltz Syndrome, Discovered


Goltz syndrome is a rare skin disorder that can also affect bone and eye development.

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 disorder often causes brittle hair and nails, and deformities in the hands, such as extra, missing, or deformed fingers.

Individuals with Goltz syndrome can also have missing or underdeveloped eyes. In addition, the disorder can affect the stomach, intestines, heart, lungs, and kidneys.

Now, an NIH-funded research has identified the gene that accounts for most cases of Goltz syndrome – these cases appear to result from a defect in the gene known as PORCN which contains the information needed to make “porcupine protein”.

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.


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