Skip to main content

Advertisement

SpringerLink
Log in

Perrault syndrome: further evidence for genetic heterogeneity

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Perrault MKB, Housset E (1951) Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. Bull Mem Soc Med Hop Paris 16:79–84

    Google Scholar 

  2. Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM (2004) Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A 128A:246–249

    Article  PubMed  Google Scholar 

  3. Nishi Y, Hamamoto K, Kajiyama M, Kawamura I (1988) The Perrault syndrome: clinical report and review. Am J Med Genet 31:623–629

    Article  PubMed  CAS  Google Scholar 

  4. Jacob JJ, Paul TV, Mathews SS, Thomas N (2007) Perrault syndrome with Marfanoid habitus in two siblings. J Pediatr Adolesc Gynecol 20:305–308

    Article  PubMed  Google Scholar 

  5. Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC (2010) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 87:282–288

    Article  PubMed  CAS  Google Scholar 

  6. McCarthy DJ, Opitz JM (1985) Perrault syndrome in sisters. Am J Med Genet 22:629–631

    Article  PubMed  CAS  Google Scholar 

  7. Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC (2011) Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA 108:6543–6548

    Article  PubMed  CAS  Google Scholar 

  8. Pallister PD, Opitz JM (1979) The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet 4:239–246

    Article  PubMed  CAS  Google Scholar 

  9. Berciano J (2011) Peripheral neuropathies: molecular diagnosis of Charcot-Marie-Tooth disease. Nat Rev Neurol 7:305–306

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We thank the patients involved in the study. We are grateful for funding and support from the Infertility Research Trust and the National Institute of Health, Manchester Biomedical Research Centre. EJ is a Manchester NIHR Research Fellow.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Genetic Medicine, Manchester Academic Health Services Centre (MAHSC), St. Mary’s Hospital, University of Manchester, Manchester, M13 9WL, UK

    Emma M. Jenkinson, Jill Clayton-Smith, Natalie Moreton, Dorothy Trump & William G. Newman

  2. Endocrinology and Diabetes Group, Manchester Academic Health Services Centre (MAHSC), St. Mary’s Hospital, University of Manchester, Manchester, M13 9WL, UK

    Julian R. E. Davis

  3. East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, CB2 0QQ, UK

    Sarju Mehta

  4. Yorkshire Regional Genetics Service, Ashley Wing, St James’s University Hospital, Leeds, LS9 7TF, UK

    Christopher Bennett

  5. National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland

    Willie Reardon & Andrew Green

  6. School of Medicine and Medical Science, University College Dublin, Dublin, Ireland

    Andrew Green

  7. Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131, Naples, Italy

    Giuseppe De Michele

  8. Department of Endocrinology, University College London Hospitals, 250 Euston Road, London, NW1 2BU, UK

    Gerard S. Conway

  9. Oxford Regional Genetics Centre, Oxford Radcliffe Hospital NHS Trust, The Churchill Old Road, Headington, Oxford, OX3 7LJ, UK

    Deirdre Cilliers

  10. Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

    Simon H. S. Pearce

Authors
  1. Emma M. Jenkinson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jill Clayton-Smith
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sarju Mehta
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Christopher Bennett
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Willie Reardon
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Andrew Green
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Simon H. S. Pearce
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Giuseppe De Michele
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Gerard S. Conway
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Deirdre Cilliers
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Natalie Moreton
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Julian R. E. Davis
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Dorothy Trump
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. William G. Newman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to William G. Newman.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Jenkinson, E.M., Clayton-Smith, J., Mehta, S. et al. Perrault syndrome: further evidence for genetic heterogeneity. J Neurol 259, 974–976 (2012). https://doi.org/10.1007/s00415-011-6285-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-011-6285-5

Keywords

Search

Navigation