|
Known Familial Dilated Cardiomyopathy (FDC) genes and their OMIM references |
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| Phenotype |
Frequency (%) |
Chromosomal location |
Locus |
OMIM [40] |
Gene symbol |
Gene |
|
|
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| Autosomal dominant FDC |
56 |
1q32 |
CMD1D |
191045 |
TNNT2 |
Cardiac troponin T |
| 3p21.1 |
191040 |
TNNC1 |
Cardiac troponin C |
|||
| 2q31 |
CMD1G |
188840 |
TTN |
Titin |
||
| 2q35 |
CMD1I |
125660 |
DES |
Desmin |
||
| 6q12-q16 |
CMD1K |
172405 |
PLN |
Phospholamban |
||
| 9 |
CMD1B |
600884 |
||||
| 10q21-q23 |
CMD1C |
193065 |
VCL |
Metavinculin |
||
| 11p11 |
600958 |
MYBPC3 |
Myosin-binding protein C |
|||
| 11p15.1 |
CMD1M |
600824 |
CSRP3 |
Cysteine-glycine-rich protein 3 |
||
| 14q11.2-13 |
CMD1A |
160760 |
MYH7 |
Cardiac β-myosin heavy chain |
||
| 15q14 |
CMD1A |
102540 |
ACTC |
Cardiac actin |
||
| 15q22.1 |
191010 |
TPM1 |
α -tropomyosin |
|||
| 17q12 |
CMD1N |
604488 |
TCAP |
Tinin-cap (teletonin) |
||
| 10q23.2 |
605906 |
LDB3 |
Cypher/ZASP |
|||
| 12p12.1 |
601439 |
ABCC9 |
Regulatory SUR2A subunit of cardiac KATP channel |
|||
|
|
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| Autosomal recessive FDC |
16 |
19q13.42 |
191044 |
TNNI3 |
Cardiac troponin I |
|
| unknown |
212110 |
|||||
|
|
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| X-linked DCM |
10 |
Xp21 |
XLCM |
300377 |
DMD |
Dystrophin |
|
|
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| Autosomal dominant FDC |
7.7 |
1q11-q23 |
LGMD1B |
150330 |
LMNA |
Lamin A/C |
| with skeletal muscle disease |
5q33-34 |
LGMD2F |
601411 |
SGCD |
δ-sarcoglycan |
|
| 4q11 |
LGMD2E |
600900 |
SGCB |
β-sarcoglycan |
||
| 6q23 |
CMD1F |
602067 |
||||
|
|
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| Autosomal dominant FDC |
2.6 |
1q1-q1 |
CMD1A |
150330 |
LMNA |
Lamin A/C |
| with conduction defects |
2q14-q22 |
CMD1H |
604288 |
|||
| 3p22.2 |
CMD1E |
600163 |
SCN5A |
Na channel, voltage-gated, type V, α polypeptide |
||
|
|
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| RareFDC: |
7.7 |
|||||
| -Left ventricular non-compaction |
Xq28 |
300069 |
TAZ |
G4.5 (tafazzin) |
||
| 18q12.1-q12.2 |
601239 |
DTNA |
α -dystrobrevin |
|||
| 10q23.2 |
605906 |
LDB3 |
Cypher/ZASP |
|||
| -Autosomal recessive with retinitis pigmentosa and deafness |
6q23-q24 |
CMD1J |
605362 |
EYA4 |
Transcriptional coactivator EYA4 |
|
| -Autosomal recessive with wooly hair and keratoderma |
6p24 |
125647 |
DSP |
Desmoplakin |
||
| X-linked congenital DCM |
Xq28 |
300069 |
TAZ |
G4.5 (tafazzin) |
||
|
|
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| Mitochondrial DCM |
mtDNA |
510000 |
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Taylor et al. Orphanet Journal of Rare Diseases 2006 1:27 doi:10.1186/1750-1172-1-27 |
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