Genetics of Perrault Syndrome

  • Research type

    Research Study

  • Full title

    Genetics of Perrault Syndrome (hearing loss and ovarian insufficiency)



  • Contact name

    William Newman

  • Contact email

  • Duration of Study in the UK

    5 years, 0 months, 1 days

  • Research summary

    Perrault syndrome (PS) is a very rare genetic condition which displays symptoms of deafness and/ or ovarian problems. Other features such as peripheral neuropathy and mild mental retardation have also been reported.
    We want to see if we can identify any further genes that may play a role in PS.
    This may help to confirm a diagnosis for individuals showing some features of the syndrome allowing them to access appropriate genetic counselling and help to identify the risk for family members too.

    Ovarian problems (specifically primary ovarian insufficiency) and sensorineural deafness are both common disorders in their own right. However, by identifying further gene mutations relevant to PS by investigating these related conditions we hope that we can try to understand how common PS might be. This may also hopefully lead to future potential therapeutic targets.

    Blood samples will be obtained (unless stored samples available) from patients with suspected PS or who have presented with common symptoms of PS including primary ovarian insufficiency (POI) and/ or sensorineural hearing loss (SNHL) along with their first degree relatives so that DNA can be extracted. We will perform genetic mapping, DNA sequencing, targeted sequencing, exome sequencing or whole genome sequencing to try and identify gene mutations that may be causative for PS, SNHL or POI.
    If variants in a gene, suspected to be causative for PS, are detected this will be need to be verified by screening a panel of healthy, ethnically matched controls for presence of the genetic change.
    If we identify a causative gene change, study participants will be invited to provide a skin biopsy. Fibroblast/keratinocytes will be cultured for functional studies and to produce induced pluripotent stem cells. There is no obligation to provide a skin biopsy.

  • REC name

    Wales REC 6

  • REC reference


  • Date of REC Opinion

    4 Feb 2016

  • REC opinion

    Further Information Favourable Opinion