RT Journal Article
SR Electronic
T1 Catalogue of inherited disorders found among the Irish Traveller population
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP jmedgenet-2017-104974
DO 10.1136/jmedgenet-2017-104974
A1 Sally Ann Lynch
A1 Ellen Crushell
A1 Deborah M Lambert
A1 Niall Byrne
A1 Kathleen Gorman
A1 Mary D King
A1 Andrew Green
A1 Siobhan O’Sullivan
A1 Fiona Browne
A1 Joanne Hughes
A1 Ina Knerr
A1 Ahmad A Monavari
A1 Melanie Cotter
A1 Vivienne P M McConnell
A1 Bronwyn Kerr
A1 Simon A Jones
A1 Catriona Keenan
A1 Nuala Murphy
A1 Declan Cody
A1 Sean Ennis
A1 Jackie Turner
A1 Alan D Irvine
A1 Jillian Casey
YR 2018
UL http://jmg.bmj.com/content/early/2018/01/21/jmedgenet-2017-104974.abstract
AB 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.