Development Abnormalies, Inclusion on Clinical Criteria of the Syndrome
Conditions
Brief summary
1. Clinical description of a French cohort of patients with CHARGE syndrome. 2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome 3. Using Next generation Sequencing, try to identify other genes involved in this syndrome, as the CHD7 gene is involved in only 40-60% of cases
Interventions
GENETICBlodd punction for genetic analysis
Sponsors
Poitiers University Hospital
Study design
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
Clinical criteria Major criteria: * Ocular coloboma * Chonamal atresia and/or cleft palate * Semi-CircularCanals hypoplasia Minor criteria: * Cranial nerves * Hypothalamic-pituitary deficiency * Internal or external ear malformation * Cardiac, esophageal malformations * Intellectual Deficiency Diagnosis criteria: * Typical CHARGE: 3 major criteria or 2 major + 2 minor * Partial CHARGE: 2 major + 1 minor * Atypical CHARGE: 2 major without minor or 1 major + 2 minor
Exclusion criteria
* Absent consentment for genetic analysis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Description Clinical and molecular analysis of a French cohort CHARGE | 12 month |
| Execution of the socio-adaptive scale, parental scale | 12 month |
| Rate of mutations of CHD7 and / or type of mutations | 12 month |
| analysis CHD7 gene from the patient's DNA | 12 month |
Countries
France
Outcome results
None listed