Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 39
- 试验地点
- 1
- 主要终点
- Identification of novel genes involved in syndromic poikiloderma
研究概览
简要总结
In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to improve the diagnostic decision tree in these syndromes, opportunities for genetic counselling for patients and their families and the follow-up of patients, notably with regard to the risk of tumours.
This study will make it possible to identify new genes implicated in syndromic poikiloderma and improve the diagnostic strategy proposed to patients with these syndromes, and to propose to patients a confirmed diagnosis, appropriate follow-up, notably with regard to the risk of tumours, genetic counselling to families and eventually an antenatal diagnosis to couples who would like to have one for future pregnancies.
The identification of new genetic causes of syndromic poikiloderma will also make it possible to complete the current classification of these syndromes
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •patients with syndromic poikiloderma, defined by the association of poikiloderma with other extradermatological clinical signs,
- •normal array-CGH, screening for chromosomal rearrangements,
- •absence of mutations in the genes RECQL4, KIND1 or C16orf57,
- •sporadic or familial involvement.
排除标准
- 未提供
研究组 & 干预措施
patients with poikiloderma
干预措施: High-throughput exome sequencing (Genetic)
结局指标
主要结局
Identification of novel genes involved in syndromic poikiloderma
时间窗: day 1
次要结局
未报告次要终点