Catalogue of inherited disorders found among the Irish Traveller population
| Autor: | Nuala Murphy, Alan D. Irvine, Niall Byrne, F. Browne, Catriona Keenan, Siobhan O’Sullivan, Mary D. King, Melanie Cotter, Andrew Green, Simon Jones, Sean Ennis, Jillian P. Casey, Bronwyn Kerr, Joanne Hughes, Jackie Turner, Ahmad Monavari, Ina Knerr, Deborah M. Lambert, Declan Cody, Vivienne McConnell, Sally Ann Lynch, Ellen Crushell, Kathleen M. Gorman |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
genetic structures Population Ethnic group Consanguinity Disease White People 03 medical and health sciences Irish Ethnicity Genetics Humans education Minority Groups Genetics (clinical) education.field_of_study Genetic Diseases Inborn language.human_language Genealogy Europe Irish traveller Genetics Population 030104 developmental biology Geography Endogamy Mutation language Ireland Founder effect |
| Zdroj: | Journal of Medical Genetics. 55:233-239 |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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