Exome Analysis in Hearing Impaired Patients — NGS-NSHL  

Hearing Impairment Clinical Trial

Official title: Exome Analysis on Hearing Impaired Patients

Status Active, not recruiting

Clinical Trial Summary

Hearing impairment is the most frequent sensory deficit in humans and affects one newborn out of 500. The prevalence rises to 3,5/1000 in teenagers due to retarded forms. Most of hearing impairments (about two thirds) have a genetic origin, with recessive, dominant or X-linked mode of inheritance. Some rare forms can be linked to mitochondrial DNA. Molecular diagnosis (i.e. defining the molecular basis of the disease, genes and precise DNA variants) is essential for the follow-up of patients and families.

The project intends to perform exome sequencing on 30 samples of families presenting with hearing impairment. Families have been included based on the genetic origin of the hearing impairment (familial cases) and the exclusion of the involvement of 74 known deafness genes. Exome sequencing (sequencing of the coding regions of all known genes, about 22,000) in these cases may underly new gene/disease relationships.

Clinical Trial Description

Exome sequencing will be performed of 10 trios that each include two affected and one non affected members of a family. Filtering of variants will be performed based on frequency. For each trio, data will be analysed in parallel to follow segregation of the variant(s) in candidate genes. The selected candidate genes will be further characterized in order to ascertain their involvement in hearing function.

Finally, once these new genes are well defined as "deafness genes" , their screening will be added to existing diagnostic panels. ;

Related Conditions & MeSH terms

• Deafness
• Hearing Impairment
• Hearing Loss

• NCT number: NCT03557879
• Study type: Observational
• Source: University Hospital, Montpellier
• Status: Active, not recruiting
• Start date: June 4, 2018
• Completion date: June 1, 2019