Trial record 20 of 470 for:    "tetrasomy 18p" OR "Chromosomal Disorder"

Genetic Analysis of Fraser Syndrome and Fryns Syndrome

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00032877
First received: April 4, 2002
Last updated: March 3, 2008
Last verified: February 2003
  Purpose

This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling.

Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study.

Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.


Condition
Fraser Syndrome
Fryns Syndrome
Chromosomal Abnormalities
Abnormalities, Multiple

Study Type: Observational
Official Title: Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 400
Study Start Date: April 2002
Estimated Study Completion Date: February 2003
Detailed Description:

We would like to determine the molecular genetic etiology of two rare human malformation syndromes, Fraser syndrome (OMIM 219000) and Fryns syndrome (OMIM 229850). To date, we are unaware of molecular genetic studies that have been performed in either syndrome.

We are planning to perform molecular genetic studies on DNA specimens from affected individuals ascertained outside NIH by other clinicians and/or reported in the medical literature. Should these studies prove fruitful, we would plan to expand this work to a combined clinical and molecular study to fully delineate the phenotypes associated with these disorders.

We plan to collect DNA specimens from affected patients and from unaffected siblings and parents and to evaluate the specimens in the laboratory by linkage analysis, physical mapping, candidate gene characterization and mutation screening. If the causative genes(s) for either syndrome are identified, then mouse models of the diseases may be developed and cell biologic studies of normal and mutant proteins may be undertaken.

The cloning of these genes would enable better characterization of human developmental processes and improve patient counseling for individuals and families affected by these diseases.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

INCLUSION CRITERIA:

For Fraser syndrome, clinical criteria for inclusion will be by:

Satisfying diagnostic criteria for Fraser syndrome. These are at least two major criteria and one minor criterion (listed below) or one major criterion and four minor criteria.

Major criteria:

Cryptophthalmos

Syndactyly

Abnormal genitalia

Sib with cryptophthalmos syndrome

Minor criteria:

Congenital malformation of the nose

Congenital malformations of the ears

Congenital malformation of the larynx

Cleft lip and/or palate

Skeletal defects

Umbilical hernia

Renal agenesis

Mental retardation

Cryptophthalmos with additional anomalies consistent with the phenotypic spectrum of Fraser syndrome but without satisfying diagnotisic for Fraser syndrome may also be considered sufficient for inclusion.

For Fryns syndrome, formal diagnostic criteria have not been published. The clinical criteria for inclusion will be:

Diaphragmatic hernia with at least one additional anomaly found in the spectrum of Fryns syndrome, including cleft lip and or palate, renal or genital malformations, cerebral malformations or hydrocephalus, corneal clouding, craniofacial dysmorphism and brachydactyly or nail hypoplasia, pulmonary agenesis or microphthalmia.

Patients with four or more of the additional anomalies may be included in the study.

Parents and unaffected siblings will be also included for linkage analysis.

Specimens of DNA or whole blood for DNA extraction collected outside the NIH may be accepted into the study if they are obtained through an approved NIH protocol consent form.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00032877

Locations
United States, Maryland
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00032877     History of Changes
Other Study ID Numbers: 020148, 02-HG-0148
Study First Received: April 4, 2002
Last Updated: March 3, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Linkage Study
Gene Identification Study
Diaphragmatic Hernia
Fraser Syndrome
Cryptophthalmos
Fryns Syndrome
Hydrolethalus Syndrome
Positional Cloning

Additional relevant MeSH terms:
Chromosome Aberrations
Chromosome Disorders
Abnormalities, Multiple
Congenital Abnormalities
Facies
Fraser Syndrome
Hernia, Diaphragmatic
Limb Deformities, Congenital
Syndrome
Disease
Disease Attributes
Eye Abnormalities
Eye Diseases
Genetic Diseases, Inborn
Hernia
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Pathologic Processes
Pathological Conditions, Anatomical

ClinicalTrials.gov processed this record on October 23, 2014