Navigation Links
Researchers Discover Gene For Rare Skin Disorder

WASHINGTON, June 20, 2007-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 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 yver, associate professor at Baylor College of Medicines Departments of Obstetrics and Gynecology and of Molecular and Human Genetics and the senior author of the paper. Mental retardation is seen in about fifteen percent of patients with Goltz syndrome.

Because 90 percent of Goltz syndrome cases are seen in females, the disorder was believed to be caused by a gene on the X chromosome. After analyzing the genes of two girls with Goltz syndrome, the researchers found that both patients were missing a portion of the X chromosome where seven genes are located. Of the missing seven, the researchers learned that Goltz syndrome resulted from an absence of the PORCN gene, said Dr. Van den Veyver.

The PORCN gene is active in the embryo and fetus, creating proteins important in the development of the skin, skeleton, and eyes — all affected in the disorder.

Researchers then did genetic analyses of 15 girls with Goltz syndrome and found that the PORCN gene was affected in 10 of them.

Although the PORCN gene has been studied in mice and fruit flies, very little is known about the genes function in humans, said Dr. Van den Veyver. The mouse and Drosophila porcupine proteins are known to be important for the secretion of Wnt proteins from the cells that produce them. Wnt proteins are involved in early development. They interact with other proteins within the cell to begin the complex chain of events leading to the development and differentiation of organ systems in early life.

This discovery may lead to greater understanding of the function of Wnt proteins in humans, said Dr. Van den Veyver.

By identifying the genetic defect which causes Goltz syndrome, it may be possible to understand more of the processes critical for skin, eye and bone development, she said.

The findings are important because they offer insight into a developmental disorder that was previously little understood, said Ljubisa Vitkovic, M.D., of NICHDs Menta l Retardation and Developmental Disabilities Branch. But they also illustrate how a mutation in the human counterpart of a protein known to regulate development in flies and mice can affect the skin and other human organs.

The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institutes Web site at

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

Robert Bock
or Marianne Glass Miller


Related medicine technology :

1. NIEHS Researchers Identify Enzyme Critical in DNA Replication
2. Stanford Researchers Find Brain Pathway of Depression in Rats
3. Researchers Discover Method for Identifying How Cancer Evades the Immune System
4. Prolexys Pharmaceuticals and Columbia University Researchers Publish Study on Anti-Tumor Properties of a Selective Small Molecule Anti-Tumor Agent With Novel Mechanism of Action
5. NCI Researchers Discover Genes That Are Turned on at High Levels in Tumor-associated Blood Vessels of Mice and Humans
6. Stanford Researchers Track Human Stem Cells Transplanted Into Rat Brain
7. Dasatinib Shows High Early Response Rate as First Treatment for Chronic Myelogenous Leukemia, M. D. Anderson Researchers Report
8. World First Medical Treatment Announced by Researchers at Queen Mary University London and University of Leicester
9. Researchers Urge Caution in Using ESAs for Cancer-Related Anemia
10. Researchers Identify New Genetic Risk Factors for Type 2 Diabetes
11. Abbott Researchers Focus on New Cutting-Edge Approaches in the Fight Against Cancer
Post Your Comments:
(Date:11/25/2015)... WILMINGTON, N.C. , Nov. 25, 2015 /PRNewswire/ ... announces the planned investment of at least $15.8 ... in Wilmington, NC . The ... services capacity to meet the growing demands of ... Wilmington site expansion will provide up ...
(Date:11/25/2015)... , Nov. 25, 2015 Allergan plc (NYSE: ... agreement with the New York State ... of the Sherman Act, and other statutes with the Attorney ... February 2014, to cease marketing and selling the now generic ... settlement, Allergan admits no liability, has released its counterclaims against ...
(Date:11/25/2015)... USP 800 applies to all healthcare ... pharmacy technicians, nurses, physicians, physician assistants, home healthcare ... covers all entities which store, prepare, transport, or ... institutions, patient treatment clinics, physicians, practice facilities, and ... --> What is the purpose of USP ...
Breaking Medicine Technology:
(Date:11/26/2015)... ... November 26, 2015 , ... Somu Sivaramakrishnan announced today ... owner, Somu now offers travelers, value and care based Travel Services, including exclusive ... as well as, cabin upgrades and special amenities such as, shore excursions, discounted ...
(Date:11/26/2015)... , ... November 26, 2015 , ... ... set of retro-fused, self-animating trailer titles with ProTrailer: Vintage. This newly styled ProTrailer ... classically-influenced trailer titles work with any font, giving users limitless opportunities to stylize ...
(Date:11/25/2015)... ... 2015 , ... The holiday season is jam-packed with family ... of attendees is of the utmost importance. Whether you are cooking at home ... recipes a try this holiday season. , Turkey Croquettes ,     Ingredients: ...
(Date:11/25/2015)... ... November 26, 2015 , ... Ministers, senior ... (EU), ANDI Pan African Centres of Excellence, and public R&D institutions, civil societies ... the opening of the 5th African Network for Drugs and Diagnostics Innovation, ANDI, ...
(Date:11/25/2015)... ... November 25, 2015 , ... Dental professionals who would like ... , are invited to attend Dr. Mark Iacobelli’s Advanced Implant Mentoring (AIM) CE course. ... OH. , As the co-founders of Advanced Implant Mentoring (AIM), Dr. Iacobelli and ...
Breaking Medicine News(10 mins):