Genetic Analysis of Hereditary Non-Syndromic Oral Clefts

National Institutes of Health (NIH)

Status: Completed

Conditions: Hereditary Oral Clefts

Study type: Observational

Funder types: NIH

Identifiers

NCT00340626

OH97-HG-N035

999997035

Details and patient eligibility

About

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.

Full 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.

Enrollment: 690 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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:

1. A cluster of 2 or more affected first degree relatives, such as a parent and two offspring or 2 siblings, or
2. The occurrence of oral clefts in each of 2 generations in either the proband's paternal or maternal lineages.
3. 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.

Trial design

690 participants in 2 patient groups

Control

Description:

healthy individuals with no history of oral cleftsto serve as controls

Oral Cleft Family Members

Description:

individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives