You are here

Article Text

Article menu
Download PDFPDF
Diagnostics
Original Article
Catalogue of inherited disorders found among the Irish Traveller population
  1. Sally Ann Lynch1,2,
  2. Ellen Crushell2,3,
  3. Deborah M Lambert1,
  4. Niall Byrne1,
  5. Kathleen Gorman2,4,
  6. Mary D King2,4,
  7. Andrew Green2,
  8. Siobhan O’Sullivan5,
  9. Fiona Browne6,
  10. Joanne Hughes3,
  11. Ina Knerr3,
  12. Ahmad A Monavari3,
  13. Melanie Cotter7,
  14. Vivienne P M McConnell8,
  15. Bronwyn Kerr9,
  16. Simon A Jones9,
  17. Catriona Keenan10,
  18. Nuala Murphy11,
  19. Declan Cody12,
  20. Sean Ennis2,
  21. Jackie Turner1,
  22. Alan D Irvine6,13,
  23. Jillian Casey2
  1. 1 National Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Republic of Ireland
  2. 2 Academic Centre on Rare Diseases, University College Dublin, Dublin, Republic of Ireland
  3. 3 National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Republic of Ireland
  4. 4 Department of Neurology, Temple Street Children’s University Hospital, Dublin, Republic of Ireland
  5. 5 Department of Paediatrics, Royal Belfast Hospital for Sick Children, Belfast, UK
  6. 6 Department of Paediatric Dermatology, Our Lady’s Children’s Hospital, Dublin, Republic of Ireland
  7. 7 Department of Paediatric Haematology, Temple Street Children’s University Hospital, Dublin, Republic of Ireland
  8. 8 Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, UK
  9. 9 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK
  10. 10 National Coagulation Laboratory, Central Pathology Laboratory, St. James’s Hospital, Dublin, Republic of Ireland
  11. 11 Department of Paediatric Endocrinology, Temple Street Children’s University Hospital, Dublin, Republic of Ireland
  12. 12 Department of Paediatric Endocrinology, Our Lady’s Children’s Hospital, Dublin, Republic of Ireland
  13. 13 Department of Clinical Medicine, Trinity College Dublin, Dublin, Republic of Ireland
  1. Correspondence to Dr Sally Ann Lynch, National Rare Disease Office, Mater Misericordiae University Hospital, Dublin D07 R2WY, Republic of Ireland; sally.lynch{at}ucd.ie

Abstract

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population. Key clinicians and scientists with experience in managing rare disorders seen in this population have developed a de facto advisory service on differential diagnoses to consider when faced with specific clinical scenarios.

Objective(s) To catalogue all known inherited disorders found in the Irish Traveller population.

Methods We performed detailed literature and database searches to identify relevant publications and the disease mutations of known genetic disorders found in Irish Travellers.

Results We identified 104 genetic disorders: 90 inherited in an autosomal recessive manner; 13 autosomal dominant and one a recurring chromosomal duplication.

Conclusion We have collated our experience of inherited disorders found in the Irish Traveller population to make it publically available through this publication to facilitate a targeted genetic approach to diagnostics in this ethnic group.

  • consanguinity
  • endogamous
  • founder mutation
  • irish traveller

https://doi.org/10.1136/jmedgenet-2017-104974

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Contributors We declare that all coauthors have contributed to this work. SAL, DML, EC, NB, ADI and JC have contributed to the design of the article and data acquisition. KG, MDK, SOS, JH, FB, MC, VPMMC, JT, AAM, IK, AG, DC, NM, BK, SAJ, CK and SE contributed to the acquisition of the molecular data and the family structure. All authors have approved the manuscript.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data sharing statement SAL, EC, AG, MDK and ADI are happy to advise clinicians on possible differential diagnoses based on individual phenotypes and demographic details of patients. The Irish Traveller network is available online (http://www.orpha.net).