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Study of Selected X-linked Disorders: Goltz Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00691223
Recruitment Status : Active, not recruiting
First Posted : June 5, 2008
Last Update Posted : March 9, 2022
Information provided by (Responsible Party):
Ignatia Van den Veyver, Baylor College of Medicine

Brief Summary:
Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome. This neurodevelopmental disorder is characterized by birth defects of the skin, skeleton, eyes, and in some cases other organs. Our team is working to obtain a better understanding of how mutations in PORCN lead to the clinical features of Goltz syndrome. We are also trying to identify the genetic change in those patients where no mutations in PORCN have been found. We are also investigating conditions with phenotypes similar to Goltz syndrome to determine if they also have mutations in PORCN. We are collecting blood samples from patients and their parents. DNA from these samples is isolated and then used for genetic testing. We also review medical records to compare clinical symptoms with the detected mutations to determine if there is a correlation.

Condition or disease
Focal Dermal Hypoplasia (FDH) Goltz Syndrome

Detailed Description:

Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an X-linked dominant neurodevelopmental disorder. The primary features of FDH include areas of hypoplastic skin (atrophy, linear pigmentation and herniation of fat through dermal defects), digital patterning defects (syndactyly, polydactyly, camptodactyly, absence deformities), ocular and dental malformations, mild dysmorphism. Variable other defects include a pointed chin, hypoplastic ears, nasal deformities, short stature, papillomas of lips, gingival and larynx, dystrophic nails, sparse brittle hair. Mental retardation occurs in approximately 15%. 90% of individuals with FDH are female. 95% percent of all cases and 100% of male cases appear de novo.

Using array-based comparative hybridization (array-CGH) a deletion was initially identified in PORCN in two girls with FDH. Sequencing of genes in this region has resulted in the identification of mutations in PORCN in >75% of other individuals affected with FDH. A manuscript describing these mutations was published in Nature Genetics (Wang, 2007). PORCN encodes the human homolog of the Drosophila porcupine protein and has been found in drosophila and mouse studies to be a key regulator of Wnt-protein signaling. We believe that the PORCN mutation may cause FDH by affecting Wnt signaling, but this has yet to be proven.

For this study we are collecting information on patients with clinical findings suggestive of FDH or with known PORCN mutations. A detailed family history will be obtained when indicated, and additional family members will be evaluated afer appropriately obtained written voluntary consent. A detailed report of the history or physical findings will be obtained from referring physicians for patients identified at outside facilities or the participants may be evaluated by the study collaborators. Blood will be obtained from affected individuals unaffected parents and from other affected or unaffected family members where indicated. Occasionally, affected individuals may undergo surgical procedures with removal of tissues; in this case we may obtain tissues that would be otherwise discarded or that are not essential for further diagnostic studies or clinical care of the patient. It is anticipated that these specimens will be extremely valuable for understanding the pathogenesis of the investigated conditions. DNA, RNA or protein will be prepared from leukocytes and from tissues and used for mutation analysis and other molecular studies of the identified genes. Permanent lymphoblastoid cell lines will be prepared and stored in the laboratory as a permanent source of DNA for the molecular studies.

We are not actively recruiting but study remains open for data analysis on existing data and samples.

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Study Type : Observational
Actual Enrollment : 84 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders
Actual Study Start Date : June 2007
Estimated Primary Completion Date : January 2025
Estimated Study Completion Date : January 2025

Individuals with Goltz syndrome and their first degree relatives.

Biospecimen Retention:   Samples With DNA
lymphoblast DNA; tissue

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with Goltz syndrome and their parents. Sometimes additional family members are also enrolled.

Inclusion Criteria:

  • Features suggestive of Goltz syndrome (not all features must be present)

    • Areas of hypoplastic skin
    • Digital patterning defects
    • Ocular and dental malformations
  • Presence of a mutation in PORCN

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00691223

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United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
Sponsors and Collaborators
Baylor College of Medicine
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Principal Investigator: Ignatia B Van den Veyver, MD Baylor College of Medicine
Publications of Results:
Other Publications:
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Responsible Party: Ignatia Van den Veyver, Professor, Baylor College of Medicine Identifier: NCT00691223    
Other Study ID Numbers: BCM Goltz H21291
First Posted: June 5, 2008    Key Record Dates
Last Update Posted: March 9, 2022
Last Verified: February 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Deidentified patient data may be published following peer review in journals and/or presented at scientific meetings. There is currently no new recruitment or immediate publication plan.
Keywords provided by Ignatia Van den Veyver, Baylor College of Medicine:
Focal dermal hypoplasia
Goltz syndrome
X linked disorders
Wnt signaling
Additional relevant MeSH terms:
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Focal Dermal Hypoplasia
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Skin Diseases, Genetic
Skin Diseases