Table 4 of
Malaichamy, Mol Vis 2014; 20:341-351. Table 4 of
Malaichamy, Mol Vis 2014; 20:341-351.
Table 4. Genotype data of the eight cCSNB families.
| S.No | Patient/ Family No. | Consanguinity | Gene and Mutations identified | Bioinformatics analysis | Segregation analysis | Number of controls screened | Population frequency as reported in 1000 genome and ExomeVariant Server database | |
|---|---|---|---|---|---|---|---|---|
| 1 | Patient 1/ Family 1 | No | TRPM1 c.[1870C>T ];[1870C>T] p.(R624C) (rs387906862) Reported [23] | ♦SIFT – not tolerated ♦Polyphen – probably damaging ♦Conservation across species – conserved across vertebrates | Heterozygous in parents and homozygous wild-type in unaffected sibling | 114 | Not reported | |
| 2 | Patient 2/ Family 2 | Yes | TRPM1 c.[3326_3327dupC]; [3326_3327dupC] p.(P1110Tfs*39) Novel | _ | Homozygous mutant in the index patient’s affected daughter and as heterozygous in the unaffected husband. | _ | Not reported | |
| 3 | Patient 3/ Family 3 | Yes | GPR179 c.[1811C>T];[1811C>T] p.(P604L) Novel | ♦SIFT – not tolerated ♦Polyphen – probably damaging ♦Conservation across species – conserved across vertebrates | Heterozygous in parents | 111 | Not reported | |
| 4 | Patient 4/ Family4 | Yes | TRPM1 c.[416G>T];[416G>T] p.(G139V) Novel | ♦SIFT – not tolerated ♦Polyphen – probably damaging ♦Conservation across species – conserved across vertebrates | Homozygous mutant in the index patient’s affected sister and as heterozygous carrier in unaffected sister | 117 | Not reported | |
| 5 | Patient 5/ Family 5 | Yes | TRPM1 c.[398C>A ];[398C>A ] p.(A133D) Novel | ♦SIFT – not tolerated ♦Polyphen – probably damaging ♦Conservation across species – conserved across vertebrates | Heterozygous carrier parents and in unaffected sib | 117 | Not reported | |
| 6 | Patient 6/ Family 6 | No | TRPM1 c.[1870C>T]; [(2783G>A)] p.([R624C];[R928Q]) c.1870C>T-(rs387906862) Reported [23] c.2783G>A - Novel (compound heterozygote) | ♦SIFT – not tolerated ♦Polyphen – probably damaging ♦Conservation across species – conserved across vertebrates | Father is heterozygous for c.1870C>T. The affected brother is also compound heterozygous for c.1870C>T and c.2783G>A. | 114 111 | Not reported Not reported | |
| 7 | Patient 7/ Family 7 | Yes | TRPM1 c.[857C>T];[857C>T] p.(S286L) Novel | ♦SIFT – not tolerated ♦Polyphen – probably damaging ♦Conservation across species – conserved across vertebrates | The three affected are homozygous for the mutant while the unaffected are heterozygous carriers | 110 | Not reported | |
| 8 | Patient 8/ Family 8 | Yes | GRM6 c.[2267G>A];[2267G>A] p.(G756D) Reported [41] | ♦Provean – deleterious ♦SIFT – tolerated ♦Polyphen –benign Conservation across species – conserved across 78% of vertebrates | Blood samples of the family members are not available. | 114 | Not reported | |