Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Cleft Lip and Palate
- Sponsor
- Centre Hospitalier Universitaire, Amiens
- Enrollment
- 30
- Locations
- 1
- Primary Endpoint
- Identification of genetic factors
- Status
- Recruiting
- Last Updated
- 3 years ago
Overview
Brief Summary
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting
Detailed Description
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting. Moreover, the efficiency of Whole Exome Sequencing -WES- was proven. The efficiency of WES was proven by the identification of the genes causing Freeman Sheldon and Miller's syndrome, followed by several others. In the Picardy region, management and follow-up of orofacial cleft patients are well-organised by a multidisciplinary team in the university hospital of Amiens. The investigators therefore decided to perform whole exome sequencing (WES) on precisely phenotyped non-syndromic CL/P patients followed in our center.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Subject with a NSCL/P or CL/P of unknown etiology,
- •national health care insurance holders
Exclusion Criteria
- •Subject with a CL/P of known etiology,
- •Subject with a NSCL/P and an IRF6 mutation
Outcomes
Primary Outcomes
Identification of genetic factors
Time Frame: Day 1
Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).