Table 1.
Mutations in RIT1, Family Status, and Heart Defects of Mutation-Positive Individuals
| Subject | Exon | Nucleotide Changea | Amino Acid Changeb | Father | Mother | HCMc | PSc | Other Heart Defectsc |
|---|---|---|---|---|---|---|---|---|
| NS414 | 2 | c.104G>C | p.Ser35Thr | WT | p.Ser35Thr | + | – | MVP, MR |
| KCC27 | 2 | c.104G>C | p.Ser35Thr | NA | NA | + | + | – |
| NS43 | 4 | c.170C>G | p.Ala57Gly | NA | NA | + | – | MR, TR |
| NS185 | 4 | c.170C>G | p.Ala57Gly | NA | NA | + | + | ASD, PDA |
| NS216 | 4 | c.170C>G | p.Ala57Gly | NA | NA | + | – | – |
| NS402 | 4 | c.170C>G | p.Ala57Gly | WT | WT | + | + | – |
| NS168 | 5 | c.242A>G | p.Glu81Gly | NA | NA | – | + | VSD |
| NS410 | 5 | c.244T>G | p.Phe82Val | WT | WT | + | – | – |
| NS358 | 5 | c.246T>G | p.Phe82Leu | WT | WT | – | + | ASD |
| NS465 | 5 | c.246T>G | p.Phe82Leu | NA | NA | – | + | VSD |
| NS276 | 5 | c.247A>C | p.Thr83Pro | WT | WT | + | + | PVC |
| KCC8 | 5 | c.265T>C | p.Tyr89His | NA | NA | + | + | – |
| KCC38 | 5 | c.270G>T | p.Met90Ile | WT | WT | + | + | ASD, VSD, PDA |
| NS234 | 5 | c.284G>C | p.Gly95Ala | WT | WT | – | – | ASD |
| NS265 | 5 | c.284G>C | p.Gly95Ala | WT | WT | + | + | – |
| Og22 | 5 | c.284G>C | p.Gly95Ala | NA | NA | – | – | – |
| Og45 | 5 | c.284G>C | p.Gly95Ala | NA | NA | + | + | ASD |
PCR primers used for sequencing are shown in Table S3. Nucleotide changes are not located in CpG dinucleotides, suggesting that they exhibit baseline mutation rates with a phenotypic filtering effect and that only these mutations lead to this phenotype. Abbreviations are as follows: WT, wild-type; HCM, hypertrophic cardiomyopathy; PS, pulmonic stenosis; MVP, mitral valve prolapse; MR, mitral regurgitation; TR, tricuspid regurgitation; ASD, atrial septal defect; PDA, patent ductus arteriosus; VSD, ventricular septal defect; PVC, premature ventricular contraction; and NA, not available.
RefSeq NM_006912.5.
RefSeq NP_008843.1.
HCM and heart anomalies were diagnosed by echocardiography.