Table 3.
Possible splice site error associated with novel intronic substitution
| Gene | Intron | Mutation name according to coding DNA level (cDNA) | No. of patients (IDs) | Cosegregation | Detection in Egyptian controls (200 alleles) or reported in EVSa (allele freq) 1 = present 0 = Absent |
|---|---|---|---|---|---|
| MYBPC3 | 3 | c.407 − 7C > A | 2 (P14, P16) | Absent (P14′a) | 0 |
| MYBPC3 | 7 | c.821 + 3G > T | 1 (PU1) | Yes (PU1′A) | 0 |
| MYBPC3 | 16 | c.1458 − 7C > A | 1 (P89) | TBP* | 0 |
| MYBPC3 | 16 | c.1458 − 17C > G | 1 (P17) | TBP* | 0 |
| MYBPC3 | 22 | c.2149 − 8C > T | 1 (P100) | TBP* | 0 |
| MYBPC3 | 32 | c.3627 + 2del | 1 (PU2) | NT | 0 |
| TNNT2 | 14 | c.690 − 4G > T | 1 (P32) | TBP* | 1 (0.0002) a |
| TNNT2 | 15 | c.781 − 48_64del | 1 (PA78) | TBP* | 0 |
MYBPC3 NM_000256.3, MYH7 NM_000257.2, TNNT2 NM_001001430.1, NT not tested, TBP* To Be Pursued by family clinical screening to test cosegregation in affected family members
aAllele frequency obtained from Exome Variant Server (EVS) of Exome Sequencing Project (ESP): http://evs.gs.washington.edu/EVS/) [36]. Mutations in bold were reported in EVS