Mutation, Oculocutaneous Albinism
Conditions
Keywords
CGH array chip, Homozygosity mapping
Brief summary
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.
Detailed description
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients. .
Interventions
OTHERGenetic analyzes
Analysis by CGH array, homozygotic cartography and candidate gene sequencing
Sponsors
University Hospital, Bordeaux
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
-Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)
Exclusion criteria
None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Presence of a genetic anomaly | At the screening | Analysis by CGH (Comparative Genomic Hybridization) array : The Log2 values of the patient / reference fluorescence intensity ratios (Log2R) are -1 in the case of a heterozygous deletion, 0.5 in the case of heterozygous duplication and 0 in the absence of rearrangement. |
| Identification of a genetic mutation | At the screening | By sequencing candidate genes : homozygotic cartography and candidate gene sequencing |
Contacts
PRINCIPAL_INVESTIGATORFanny MORICE-PICARD, Dr
University Hospital, Bordeaux
Outcome results
None listed