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.
“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 findings were published online in Nature Genetics.
or Marianne Glass Miller
Message posted by: Rashmi Nemade
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