Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
Study Details
Study Description
Brief Summary
In a collaborative effort with the IBN AL-NAFEES Hospital (Damascus, Syrian Arab Republic), individuals from multiplex families determined to have hereditary oral clefts will be studied. The purpose of this study is to identify the gene(s) involved in heritable oral clefts by linkage analysis and gene mapping strategies. Characterization of genes involved in inherited oral clefts could provide important insight into the inheritance and pathogenesis of this disease.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
In a collaborative effort with the IBN AL-NAFEES Hospital (Damascus, Syrian Arab Republic), individuals from multiplex families determined to have hereditary oral clefts will be studied. Healthy Syrian individuals with no family history of oral clefts will also be enrolled as a comparison group. The purpose of this study is to identify the gene(s) involved in heritable oral clefts by linkage analysis and gene mapping strategies. Characterization of genes involved in inherited oral clefts could provide important insight into the inheritance and pathogenesis of this disease. All families are enrolled into the study by our Syrian collaborators (under Ethics Board approval from the IBN AL-NAFEES Hospital) and only coded phenotype data and coded biospecimens are ever received at the NIH.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Control healthy individuals with no history of oral cleftsto serve as controls |
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| Oral Cleft Family Members individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives |
Outcome Measures
Primary Outcome Measures
- Identification of genetic risk variants for oral clefts [Ongoing]
To identify and characterize genes responsible for non- syndromic and syndromic oral clefts by genetic family studies including linkage analysis, association analysis, positional cloning, evaluation of candidate genes, and eventual evaluation of mutations in identified genes.
Eligibility Criteria
Criteria
- INCLUSION CRITERIA:
Enrollment in this study will be limited to individuals with non-syndromic unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives, from families which meet the following criteria:
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A cluster of 2 or more affected first degree relatives, such as a parent and two offspring or 2 siblings, or
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The occurrence of oral clefts in each of 2 generations in either the proband's paternal or maternal lineages.
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The occurrence of oral clefts in 2 or more cousins (up to second cousins)
The subject population is comprised of probands and their families previously examined at the IBN-AL NAFEES Hospital or at other hospitals and clinics in the Syrian Arab Republic as well
as healthy controls from the same population. Consent documents are in Arabic language for non-English-speaking subjects
EXCLUSION CRITERIA:
Individuals unable to provide consent, except for cases who are children and mentally impaired persons with consenting parents or guardians.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | IBN Al Nafees Hospital | Damascus | Syrian Arab Republic |
Sponsors and Collaborators
- National Human Genome Research Institute (NHGRI)
Investigators
- Principal Investigator: Joan Bailey-Wilson, Ph.D., National Human Genome Research Institute (NHGRI)
Study Documents (Full-Text)
None provided.More Information
Publications
- Shprintzen RJ, Siegel-Sadewitz VL, Amato J, Goldberg RB. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet. 1985 Apr;20(4):585-95.
- Wyszynski DF, Beaty TH, Maestri NE. Genetics of nonsyndromic oral clefts revisited. Cleft Palate Craniofac J. 1996 Sep;33(5):406-17. Review.
- Zlotogora J. Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity. Am J Med Genet. 1997 Feb 11;68(4):472-5.
- 999997035
- OH97-HG-N035