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FB2026_01
,
released March 12, 2026
This report describes dilated cardiomyopathy 1L (CMD1L), which is a subtype of dilated cardiomyopathy. The human gene implicated in this disease is SGCD, which encodes delta sarcoglycan. There is one fly ortholog, Scgδ, for which multiple genetic reagents, including classical amorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis, have been generated. SCGD is also associated with the disease limb-girdle muscular dystrophy, type 2F (MIM:601287, FBhh0000193).
This subtype of dilated cardiomyopathy is one of several cases in which the implicated gene is also associated with muscular dystrophy (MD). In addition, dilated cardiomyopathy is frequently one of the symptoms of MD. Muscular dystrophy is a genetically heterogeneous disease with many implicated genes; the same gene may be associated with different levels of severity of disease or different subsets of muscles affected. See the human disease model report 'muscular dystrophy, sarcoglycan-related D,G' (FBhh0000193).
Multiple UAS constructs of the human Hsap\SGCD gene have been introduced into flies, including wild-type SGCD and a gene carrying a mutational lesion; functional complementation using the human SGCD gene has not been tested. Variant(s) implicated in human disease tested (as transgenic human gene, SGCD): the S151A variant form has been introduced into flies; this variant is implicated in both of the diseases associated with SGCD, limb-girdle muscular dystrophy, type 2F (LGMD2F) and dilated cardiomyopathy 1L (CMD1L). Cardiac-specific or conditional expression of the S151A variant in adult flies results in progressive deterioration in cardiac function. See the 'Disease-Implicated Variants' table below.
[updated Apr. 2022 by FlyBase; FBrf0222196]
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: (1) Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion); (2) arrhythmias and/or conduction system disease; (3) thromboembolic disease (from left ventricular mural thrombus) including stroke. [from Dilated Cardiomyopathy Overview, pubmed:20301486 2016.01.26]
Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010, pubmed:20551992). [from MIM:115200, 2016.01.27]
[CARDIOMYOPATHY, DILATED, 1L; CMD1L](https://omim.org/entry/606685)
[SARCOGLYCAN, DELTA; SGCD](https://omim.org/entry/601411)
Dilated cardiomyopathy 1L (CMD1L) is caused by mutations in the gene encoding delta-sarcoglycan (SGCD). [From MIM:606685, 2016.02.02]
The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM:300377) and syntrophin (SNTA1; MIM:601017), the alpha- and beta-dystroglycans (see MIM:128239), and the sarcoglycans (Crosbie et al., 2000, pubmed:10942431). [From MIM:601411, 2016.02.02]
Many to one: 3 human to 1 Drosophila.
Ortholog of human SGCD, SGCG, and SGCZ (1 Drosophila to 3 human).
Dmel\Scgδ shares 39% identity and 60% similarity with human SGCD, 38% identity and 61% similarity with human SGCG, and 38% identity and 58% similarity with human SGCZ.