Genetics of Perrault Syndrome

Full Study Name

Genetics of Perrault Syndrome (hearing loss and ovarian insufficiency)

Local Principal Investigator

Professor William Newman

Study Status


Main Aims
  • To identify further genes responsible for Perrault syndrome (PS)
  • To establish the prevalence of changes in the PS gene in individuals with primary ovarian insufficiency, peripheral neuropathy and sensorineural deafness
  • To define the biological role of the proteins encoded by the PS genes
Inclusion Criteria
  • Individuals with clinical features consistent with a diagnosis of Perrault syndrome i.e. POI, and SNHL
  • Individuals with a relative with a diagnosis of Perrault syndrome
  • Individuals with POI or SNHL
  • Age >16 years
Exclusion Criteria
  • Alternative diagnosis to explain ovarian dysgenesis (e.g. Turner syndrome), peripheral neuropathy or sensorineural deafness
  • Adults lacking capacity to consent for themselves
Open Sites

Lead site: Manchester. Belfast, Birmingham, Cambridge, Cardiff, Glasgow, Leeds, Liverpool, Newcastle, Lothian, North West London, Nottingham, Oxford, Exeter, Sheffield, Southampton, Leicester

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