Table 2.
Results of Carrier Screening for 14 AR Mutations in 1,644 Hutterites from South Dakota
| Disease | Gene Mutation | Number of Heterozygotes | Number of Homozygotes | Number Screened | Carrier Frequency in Hutterites | Carrier Frequency in Other Populations |
|---|---|---|---|---|---|---|
| Limb girdle muscular dystrophy 2H | TRIM32 p.Asp487Asn | 228 | 9 | 1,493 | 0.153 (1 in 6.5) | unknown (only two non-Hutterite cases reported42) |
| Oculocutaneous albinism type 1A | TYR p.Cys91Tyr | 180 | 3 | 1,281 | 0.141 (1 in 7) | private mutation |
| Spinal muscular atrophy type III | SMN1 exon 7 del | 179 | 2 | 1,415 | 0.127 (1 in 8) | 1 in 3543 |
| Limb girdle muscular dystrophy 2I | FKRP p.Leu276Ile | 121 | 3 | 1,127 | 0.107 (1 in 9.5) | 1 in 30044 |
| Sitosterolemia | ABCG8 p.Ser107Ter | 127 | 4 | 1,515 | 0.084 (1 in 12) | private mutation |
| Joubert syndrome | TMEM237 p.Arg18Ter | 122 | 0 | 1,520 | 0.080 (1 in 12.5) | private mutation |
| Cystic fibrosis | CFTR p.Met1101Lys | 108 | 6 | 1,473 | 0.073 (1 in 13.5) | unknown (only one non-Hutterite case reported41) |
| Nonsyndromic mental retardation | TECR p.Pro182Leu | 103 | 5 | 1,496 | 0.069 (1 in 14.5) | private mutation |
| Restrictive dermopathy | ZMPSTE24 c.1085dupT | 87 | 0 | 1,361 | 0.064 (1 in 15.5) | unknown (<60 cases worldwide45) |
| Nonsyndromic deafness | GJB2 c.35delG | 54 | 0 | 1,510 | 0.036 (1 in 28) | 1 in 4035 |
| Dilated cardiomyopathy with ataxia syndrome | DNAJC19 IVS3-1G>C | 42 | 0 | 1,504 | 0.028 (1 in 36) | private mutation |
| Bardet-Biedl syndrome | BBS2 IVS3-2A>G | 42 | 0 | 1,518 | 0.028 (1 in 36) | private mutation |
| Usher syndrome type 1F | PCDH15 c.1471delT | 38 | 0 | 1,524 | 0.025 (1 in 40) | private mutation |
| Cystic fibrosis | CFTR p.Phe508del | 32 | 0 | 1,482 | 0.022 (1 in 45.5) | 1 in 3046 |
This table is ordered by carrier frequency. The combined carrier frequency for cystic fibrosis (c.1521_1523delCTT + c.3302T>A) is 0.093 (1 in 11). We use common mutation names to retain consistency with the existing literature.