Cardiomyopathy, familial dilated

Taylor, Matthew RG; Carniel, Elisa; Mestroni, Luisa

doi:10.1186/1750-1172-1-27

Orphanet Journal of Rare Diseases

Table 2 Known Familial Dilated Cardiomyopathy (FDC) genes and their OMIM references

From: Cardiomyopathy, familial dilated

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 K_ATP 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

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ISSN: 1750-1172

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