A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Annals of Human Genetics

F. Gotta, M. Lamp, A. Geroldi, L. Trevisan, P. Origone, G. Fugazza, S. Fabbri, C. Nesti, A. Rubegni, F. Morani, F.M. Santorelli, E. Bellone, P. Mandich

Research output: Contribution to journalArticlepeer-review


Perrault syndrome is a rare disorder characterized by ovarian dysgenesis, bilateral sensorineural hearing loss and associated with mutations in six mitochondrial proteins. Additional neurological features were also described. Herein, we report on a 27-year-old woman with Perrault syndrome (PS), moderate ataxia and axonal sensory-motor peripheral neuropathy in whom we identified compound heterozygous mutations in the TWNK gene (p.Val507Ile and the novel p.Phe248Ser variant). Fewer than 30 patients with PS have been reported worldwide. Neurological involvement is more frequently associated with mutations in TWNK and indicates possible genotype–phenotype correlations. TWNK mutations should be searched in patients with sensory ataxia, early onset bilateral sensorineural hearing loss, and ovarian dysfunction in women. © 2020 John Wiley & Sons Ltd/University College London
Original languageEnglish
Pages (from-to)417-422
Number of pages6
JournalAnn. Hum. Genet.
Issue number5
Publication statusPublished - 2020


  • neuropathy
  • ovarian dysgenesis
  • Perrault syndrome
  • sensorineural hearing loss
  • Twinkle
  • TWNK
  • c10orf2 protein
  • endopeptidase Clp
  • hars2 protein
  • hsd17b4 protein
  • lars2 protein
  • mitochondrial protein
  • twinkle protein
  • unclassified drug
  • acoustic reflex
  • adult
  • areflexia
  • Article
  • ataxia
  • ataxic gait
  • autosomal recessive disorder
  • balance disorder
  • case report
  • clinical article
  • clinical examination
  • echography
  • falling
  • female
  • gaze
  • gene mutation
  • genetic analysis
  • genetic counseling
  • genotype phenotype correlation
  • hammer toe
  • hemifacial atrophy
  • heterozygosity
  • heterozygote
  • hormone substitution
  • human
  • hypesthesia
  • hyporeflexia
  • impedance audiometry
  • karyotype 46,XX
  • karyotyping
  • limb disease
  • neurologic examination
  • nystagmus
  • pelvis radiography
  • perception deafness
  • peripheral neuropathy
  • perrault syndrome
  • pes cavus
  • primary amenorrhea
  • priority journal
  • psychomotor development
  • pure tone audiometry
  • reverse transcription polymerase chain reaction
  • secondary sexual characteristics
  • speech audiometry
  • speech development
  • speech discrimination


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