Table 2 Three autosomal recessive lethal mutations found only in heterozygotes in the pedigree of S-leut Hutterites in South Dakota
Name of diseaseOMIM phenotype no.GeneMutationCarrier frequency in EuropeansCarrier frequency in S-leut HutteritesSource
Bardet–Biedl syndrome209900BBS2c.472-2A > GFound only in Hutterites to date2.8aInnes et al. (2010)
Dilated cardiomyopathy with ataxia syndrome610198DNAJC19IVS3-1G > CFound only in Hutterites to date2.8aDavey et al. (2006)
Joubert syndrome/Meckel syndrome614424TMEM237p.R18XFound only in Hutterites to date8.0aSchurig et al. (1980); Huang et al. (2011)
  • ↵a The allele frequencies are reported in Chong et al. (2012).