title: Clinical genetics and the Hutterite population: a review of Mendelian disorders.
abstract: The Hutterian Bretheren is an isolated population living on the North American prairies, the current community exceeding 40,000 in number. Their unique genetic history has contributed to a founder effect, which is reflected in the Mendelian disorders present in this population today. Genetic studies in the Hutterite population have led to the identification of a number of genes over the last several years and highlights the power of this population for gene identification. However, for the more than 30 autosomal recessive conditions currently recognized in this population, the gene or Hutterite specific mutation remains to be identified for over half and novel autosomal recessive syndromes continue to be recognized. This review summarizes what is currently understood about the molecular etiology of the Mendelian disorders and highlights the cardinal features of those disorders that are unique to or over-represented in this population.
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. kboycott@cheo.on.ca
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.forename: Jillian S
authors.initials: JS
authors.lastname: Parboosingh
authors.forename: Bernie N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: R Brian
authors.initials: RB
authors.lastname: Lowry
authors.forename: D Ross
authors.initials: DR
authors.lastname: McLeod
authors.forename: Jackie
authors.initials: J
authors.lastname: Morris
authors.forename: Cheryl R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
authors.forename: Francois P
authors.initials: FP
authors.lastname: Bernier
authors.forename: Julian
authors.initials: J
authors.lastname: Midgley
authors.forename: Lisbeth Birk
authors.initials: LB
authors.lastname: Møller
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
mesh_terms: D018703:Founder Effect; D005808:Genes, Recessive / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D005826:Genetics, Medical; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D009154:Mutation; D009656:North America / Q000453:epidemiology; D033303:Protestantism