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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
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Identification of genetic factors | Experimental | Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| identification of genetic factors | Genetic | Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing |
|
| Measure | Description | Time Frame |
|---|---|---|
| Identification of genetic factors | Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES). | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Bénédicte DEMEER, MD | Contact | +33 3 22 08 75 81 | demeer.benedicte@chu-amiens.fr |
| Name | Affiliation | Role |
|---|---|---|
| Bénédicte DEMEER, MD | CHU Amiens | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Amiens Picardie | Recruiting | Amiens | 80054 | France |
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| ID | Term |
|---|---|
| D002971 | Cleft Lip |
| ID | Term |
|---|---|
| D008047 | Lip Diseases |
| D009059 | Mouth Diseases |
| D009057 | Stomatognathic Diseases |
| D009056 | Mouth Abnormalities |
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| D018640 |
| Stomatognathic System Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |