Genetic Epidemiology of Non-syndromic Dominant Deafness
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 183
- 试验地点
- 1
- 主要终点
- The identification of a deleterious mutation of a gene coding a protein present in the cochlea
研究概览
简要总结
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness. Among hereditary non-syndromic deafness autosomal-dominant inheritance is observed in about 10-20% of the cases. These forms of deafness are usually post-lingual and progressive. To date more than 41 chromosomal localisation and 21 genes associated to non syndromic dominant deafness have been described. It represents an extreme genetic heterogeneity making difficult the studies of these forms of hearing impairment. But, genetic diagnostic testing is crucial in these cases. Indeed, therapeutic research are in the way to prevent the progression of the disorder. The aim of this work is to establish the prevalence of the different genes involved in these forms of deafness.
详细描述
The protocol consists first in the recruitment of 150 families with non syndromic dominant hearing impairment. The families will be recruited by the clinical investigators. The clinic and radiological characteristics of the hearing impairment will be collected by the clinical investigators. Samples of patients and healthy relatives will be sent to the referral center. A linkage study of the whole genome by SNP studies is in progress in a cohort of large families affected by autosomal dominant deafness. This work will enable us to select the loci that may be frequently implicated in our population and screen these genes in the 150 families included in the protocol.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age > 4 years.
- •Patient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations
- •Healthy volunteer from the same families
- •Clinical and paraclinical assessment (genetic and ophthalmologic examination, audiometric tests, inner ear CT scan)
- •Affiliated to the national health insurance benefit
- •Signature of informed consent form
排除标准
- •hearing loss resulting from an extrinsic reason or an associated syndrome
- •Defective or insufficient samples
- •No or insufficient clinical and biological description
- •No informed consent form
结局指标
主要结局
The identification of a deleterious mutation of a gene coding a protein present in the cochlea
时间窗: 1 day
次要结局
- The phenotype genotype relationships after identification of the causative gene and mutation(1 day)