New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 64
- 主要终点
- Presence of a genetic anomaly
研究概览
简要总结
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.
详细描述
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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研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)
排除标准
- 未提供
结局指标
主要结局
Presence of a genetic anomaly
时间窗: 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
时间窗: At the screening
By sequencing candidate genes : homozygotic cartography and candidate gene sequencing
次要结局
未报告次要终点