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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

Fig. 1

The pedigree of the index family with hereditary dilated cardiomyopathy is illustrated herein. The green-filled square and circle indicate affected males and females, respectively. The gray squares and circles with diagonal lines indicate the deceased males and females, respectively. A thick red arrow in the pedigree specifies the proband. For the pathogenic nucleotide variation in RBM20, c.G1907A, the wild type allele is shown by G, and the potentially pathogenic variant is indicated by A. The genotypes pinpoint the co-segregation of c.G1907A (p.R636H) in the heterozygous form (GA) in all the affected members (III-2, IV-4, and IV-7), whereas the 2 unaffected family members (III-10 and IV-2) were wild type homozygous states (GG)

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