TABLE 3.
Rare Mutations Identified Among Infants of European Descent
| Gene | Mutation | RDS (n = 112) | Non-RDS (n = 161) | Missouri Population (n = 871) | ESP (n = 3510) |
|---|---|---|---|---|---|
| ABCA3 | R20W | 2 | |||
| R43C | 1 | ||||
| V129M | 1 | ||||
| A132T | 1 | ||||
| V133M | 1 | ||||
| R208W | 1 | ||||
| L212M | 3 | 14 | |||
| P246L | 1 | ||||
| R280C | 1 | ||||
| R280H | 12 | ||||
| R288K | 6 (5.3%)a | 2 (1.2%)a | 14 (1.6%)a | 54 (1.5%)a | |
| E292V | 7 (6.2%)a | 1 (0.6%)a | 1 (0.1%)a | 32 (0.9%)a | |
| V480M | 1 | ||||
| E522K | 1 | ||||
| I561F | 1 | ||||
| G594R | 1 | ||||
| L654V | 2 | ||||
| G668D | 1 | ||||
| R671C | 1 | ||||
| S693L | 1 | 7 | |||
| E725K | 1 | ||||
| T761K | 1 | ||||
| R1081W | 1 | ||||
| I1117M | 1 | ||||
| A1119E | 1 | ||||
| A1297T | 1 | ||||
| I1382M | 1 | ||||
| T1424M | 1 | ||||
| M1428L | 2 | ||||
| R1457Q | 1 | ||||
| A1466T | 1 | ||||
| R1474W | 1 | 3 | 8 | 29 | |
| V1495M | 1 | ||||
| S1516N | 1 | ||||
| R1561Q | 1 | ||||
| V1588M | 1 | ||||
| c.3863-98 C>T | 1 | ||||
| ABCA3 allele (carrier) frequency | 16 (14.3%)a | 6 (3.7%)a | 31 (3.6%)a | 176 (5.0%)a | |
| SFTPC | D15N | 1 | |||
| I26V | 1 | ||||
| A53T | 1 | 1 | |||
| L110R | 1 | ||||
| SFTPC allele (carrier) frequency | 1 (0.1%)a | 4 (0.1%)a | |||
| CHPT1 | S40W | 4 | |||
| W60C | 1 | ||||
| D132E | 2 | ||||
| CHPT1 allele (carrier) frequency | 7 (0.2%)a | ||||
| LPCAT1 | G110S | 1 | |||
| P230S | 1 | ||||
| R237Q | 1 | ||||
| M298V | 1 | ||||
| E312K | 1 | ||||
| F460V | 1 | ||||
| R526W | 1 | ||||
| LPCAT1 allele (carrier) frequency | 1 (0.1%)a | 6 (0.2%)a | |||
| PCYT1B | V192F | 1(0.03%)a | |||
Identified mutations are predicted to be damaging according to both SIFT and PolyPhen (accessed March 2012) or previous association with pediatric respiratory disease. Blank boxes indicate the mutations were not observed in that specific cohort.
a
Number (carrier frequency, assuming 1 mutation per individual).