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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation

Fig. 1

The familial pedigree, Sanger sequencing and the change of desmocollin2 protein. A: The pedigree of the family. II: 1 (the proband) presented with LVNC and HCM, complicating AF, VT and HF. SCD: sudden cardiac death. B: Sanger sequencing of DSC2 variants in the family members. Sanger sequencing revealed that II: 1 carried two variants of DSC2 p.K47Rfs*2 and p.I520T, which were not detected in II: 2. II: 3 only carried with DSC2 p.I520T variant. C: the protein of desmocollin2 consists of several domains, including signaling peptide (S), proprotein (P), four extracellular cadherin domains (EC), extracellular anchor domain (EA), the transmembrane region (TM), the intracellular anchor (IA), as well as the intracellular cytoplasmic domain (ICS). X: the lost domains of desmocollin2 protein induced by DSC2 p.K47Rfs*2 mutation. D: conservative analysis of DSC2 p.I520

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172