Sequence variants identified through next-generation DNA sequencing of 48 cardiomyopathy-associated genes
| Patient | Gene† | Nucleotide change | Predicted protein change | Type of variant |
|---|---|---|---|---|
| Cohort I | ||||
| Ia | DSG2 | c.473T>G | p.Val158Gly | VUS1 |
| Ib | JUP | c.1942G>A‡ | p.Val648Ile | VUS1 |
| Ic | VCL | c.2969C>T‡ | p.Ala990Val | VUS2 |
| Id | −§ | – | – | – |
| Ie | MYH7 | c.1633G>A+c.2863G>A‡ | p.Asp545Asn+p.Asp955Asn | Pathogenic |
| TTN | c.94036_94037delinsCT | p.Ser31346Leu | VUS1 | |
| TTN | c.13358A>G‡ | p.Tyr4453Cys | VUS2 | |
| Cohort II | ||||
| IIk | −§ | – | – | – |
| IIm | DSP | c.4274G>A | p.Arg1425Lys | VUS1 |
| IIn | MYH7 | c.4125T>A | p.Tyr1375* | Pathogenic |
| Cohort III | ||||
| IIIa | ABCC9 | c.2215G>C | p.Pro739Ala | VUS1 |
| IIIb | PKP2 | c.1592T>G | p.Ile531Ser | VUS2 |
| TTN | c.32562_32564dupAGA | p.Glu10855dup | VUS1 | |
| IIIc | −‡ | – | – | – |
VUS indicates variant of unknown clinical significance (VUS1, unlikely to be pathogenic; VUS2, uncertain).
†Nomenclature according to HGVS (Human Genome Variation Society) using the reference sequences: ABCC9 (NM_005691.2), DSG2 (NM_001943.3), DSP (NM_004415.2), JUP (NM_002230.2), MYH7 (NM_000257.2), PKP2 (NM_004572.3), TTN (NM_001256850.1; Q8WZ42), and VCL (NM_014000.2).
‡Co-segregation analysis revealed carriership in all the affected family members.
§No variations identified among 48 cardiomyopathy-associated genes.