Gene for Goltz Syndrome Identified

June 2007

Researchers at Baylor College of Medicine (BCM) in Houston report that a mutation in a gene called PORCN results in Goltz syndrome, also called Focal Dermal Hypoplasia. PORCN is involved in the secretion of proteins necessary for proper signaling within the cell that leads to differentiation of tissues into organs and other body parts. The discovery is significant in that it should enable carrier testing and pre–natal diagnosis for families affected by that syndrome. It’s also an important step in ultimately finding a cure.

Goltz syndrome affects skin, bone, eyes, teeth, nails and other body systems. The NFED is in touch with 34 individuals affected by Goltz syndrome. The NFED jump started the project in 2006 by providing $25,000 in funding and access to affected individuals.

The finding, reported in the July 2007 issue of the journal Nature Genetics, is important both for the understanding of human development and for the patients who suffer from this rare disorder, said Dr. Ignatia B. Van den Veyver, associate professor of obstetrics and gynecology and molecular and human genetics at BCM. It could lead to the discovery and better understanding of other disorders that may be associated with the same gene or with genes that have related functions.

The severity of problems resulting from the mutated gene, found on the X chromosome, vary, said Van den Veyver. There can be relatively minor to severe hand and foot abnormalities as well as those affecting the long bones of arm and legs. People with Goltz syndrome can suffer from skin defects on various body parts. In these cases, the skin does not develop normally, and fat, which usually stays under the skin, can come through, causing nodules. They can have eye abnormalities that may cause blindness in severe cases. Other organ systems are also affected.

The future research in Dr. Van den Veyver's lab will focus on understanding the normal function of PORCN and how its abnormal function leads to the features of Goltz syndrome. This will be done by analyzing the mouse model for Goltz syndrome that is being generated. The researchers will also study the gene's function and the effect of mutations in cell culture experiments. Now that the gene is known, it will also be important to continue to study the individuals who have Goltz syndrome to better understand how specific changes in the gene may relate to specific features. Dr. Van den Veyver and her research team continue to enroll families with Goltz syndrome for their studies.

Others who took part in the research include Drs. Xiaoling Wang, V. Reid Sutton, Zhiyin Yu, Rebecca Rosetta, Ying Chuck Kou, Tanya N. Eble, Ankita Patel, Christina Thaller and Ping Fang, all of BCM, and J. Omar Perza–Llanes of the Instituto Mexicano del Seguro Social in Merida, Yucatan, Mexico.

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