Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing (GENEPIC)

Centre Hospitalier Universitaire, Amiens

Status: Enrolling

Conditions: Cleft Lip and Palate

Treatments: Genetic: identification of genetic factors

Study type: Interventional

Funder types: Other

Identifiers

NCT03065686

PI2015_843_0016

Details and patient eligibility

About

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

Full 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.

Enrollment: 30 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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30 participants in 1 patient group

Identification of genetic factors

Experimental group

Description:

Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

Treatment:

Genetic: identification of genetic factors