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 flys 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.
Identifying a genetic mutation for Goltz syndrome is a critical first step in understanding and eventually treating the condition, said Duane Alexander, director of the National Institute of Child Health and Human Development, the NIH institute that provided funding for the Mental Retardation and Developmental Disabilities Research Center at Baylor College of Medicine, where the study was conducted.
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 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, said Dr. Ignatia B.
Van den Ve