Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
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.
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