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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic analyzes | Other | Analysis by CGH array, homozygotic cartography and candidate gene sequencing |
| Measure | Description | Time Frame |
|---|---|---|
| Presence of a genetic anomaly | 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. | At the screening |
| Identification of a genetic mutation | By sequencing candidate genes : homozygotic cartography and candidate gene sequencing | At the screening |
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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
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Patients having been examined during a genetic consultation, with Oculocutaneous Albinism
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| Name | Affiliation | Role |
|---|---|---|
| Fanny MORICE-PICARD, Dr | University Hospital, Bordeaux | Principal Investigator |
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| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20966063 | Result | Tourdias T, Renou P, Sibon I, Asselineau J, Bracoud L, Dumoulin M, Rouanet F, Orgogozo JM, Dousset V. Final cerebral infarct volume is predictable by MR imaging at 1 week. AJNR Am J Neuroradiol. 2011 Feb;32(2):352-8. doi: 10.3174/ajnr.A2271. Epub 2010 Oct 21. |
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| ID | Term |
|---|---|
| D016115 | Albinism, Oculocutaneous |
| ID | Term |
|---|---|
| D000417 | Albinism |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D030342 | Genetic Diseases, Inborn |
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Samples (2 blood tubes or 1 aliquot of DNA) are recorded in the DNA bank because were collected during the genetic consultation of these patients
| D009358 |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D012873 | Skin Diseases, Genetic |
| D017496 | Hypopigmentation |
| D010859 | Pigmentation Disorders |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |