Table 2

Known Familial Dilated Cardiomyopathy (FDC) genes and their OMIM references

Phenotype
Frequency (%)
Chromosomal location
Locus
OMIM [40]
Gene symbol
Gene

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

Autosomal recessive FDC
16
19q13.42

191044
TNNI3
Cardiac troponin I


unknown

212110



X-linked DCM
10
Xp21
XLCM
300377
DMD
Dystrophin

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



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

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)

Mitochondrial DCM

mtDNA

510000



Taylor et al. Orphanet Journal of Rare Diseases 2006 1:27   doi:10.1186/1750-1172-1-27