Table 1.
Genes Associated With LVNC.
| Phenotype | Gene/Locus Additional | Mode of Inheritance | References | ||||
|---|---|---|---|---|---|---|---|
| Location Phenotype | MIM number | Gene/Locus | MIM number | Phenotypes | |||
| 1p36.32 |
Left ventricular
noncompaction 8 |
615373 | PRDM16 | 605557 | Dilated cardiomyopathy | Autosomal Dominant |
(77) |
| 1q32.1 |
Left ventricular
noncompaction 6 |
601494 | TNNT2 | 191045 | Dilated cardiomyopathy Dominant | Autosomal Dominant |
(78) |
| 10q23.2 | Left ventricular noncompaction 3 |
601493 | LDB3 | 605906 | Dilated cardiomyopathy | Autosomal Dominant |
(79) |
| 11p15 |
Left ventricular
noncompaction 2 |
609470 | None | 609470 | ------ | Autosomal Dominant |
(80) |
| 11p11.2 |
Left ventricular
noncompaction 10 |
615396 | MYBPC3 | 600958 | Dilated cardiomyopathy |
Autosomal Dominant |
(81) |
| 14q11.2 |
Left ventricular
noncompaction 5 |
613426 | MYH7 | 160760 | Dilated cardiomyopathy | Autosomal Dominant |
(80,82) |
| 15q14 |
Left ventricular
noncompaction 4 |
613424 | ACTC1 | 102540 | Dilated cardiomyopathy | Autosomal Dominant |
(83) |
| 15q22.2 |
Left ventricular
noncompaction 9 |
611878 | TPM1 |
191010
|
Dilated cardiomyopathy | ----- | (81) |
| 18q11.2 |
Left ventricular
noncompaction 7 |
615092 | MIB1 | 608677 | ----- |
Autosomal Dominant |
(30) |
| 18q12.1 | Left ventricular noncompaction 1 |
604169 | DTNA | 601239 | With or without congenital heart defects |
Autosomal Dominant |
(84) |
| Xq28 | Barth syndrome | 302060 | G4.5, TAZ | 300394 | Failure to thrive Failure to grow |
X-linked recessive |
(71) |
This table was adapted from Online Mendelian Inheritance in Man (OMIM). Additional information is available at the OMIM website (85). From left to right, the table provides the location for each locus, the phenotype (LVNC), with a number that refers to phenotypes associated with the particular genes or loci), the phenotype MIM number, gene/locus, the gene/locus MIM number, additional phenotypes, mode of inheritance, and references. MIM number refers to a numerical assignment for genes and functional segments of DNA, as well as to inherited diseases. ACTC1 = actin, alpha, cardiac muscle; DTNA = dystrobrevin alpha; LDB3 = Lim domain-binding 3; LVNC = left ventricular noncompaction;MIB1 = homolog of Drosophila mindbomb; MYBPC3 = myosin-binding protein C, cardiac; MYH7 = myosin heavy chain 7, cardiac muscle, beta; PRDM16 = PR domain–containing protein 16; TAZ = tafazzin; TNNT2 = troponin T2; TPM1 = tropomyosin1. X-linked recessive (both matching genes must be abnormal to cause disease).