Table 1 Three autosomal recessive lethal diseases and corresponding mutations observed in the smaller pedigree
Name of diseaseOMIM phenotype no.GeneMutationCarrier frequency in EuropeansCarrier frequency in S-leut Hutterites (%)Source
Cystic fibrosisa219700CFTRp.F508dela2.2–3.9%2.2bFujiwara et al. (1989); Zielenski et al. (1993)
p.M1101KaUnknown (one case reported)7.3b
Nonsyndromic mental retardation614020TECRp.P182LFound only in Hutterites to date6.9bÇalışkan et al. (2011)
Myopathy with movement disorder and intellectual disabilityTRAPPC11c.1287+5G > AFound only in Hutterites to date7Bögershausen et al. (2013)
  • a See Materials and Methods for treatment of the two mutations in CFTR.

  • b The allele frequencies are reported in Chong et al. (2012).