Fig. 1 | Journal of Human Genetics

Fig. 1

From: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease

Fig. 1

The first family affected by the c.1617del variant of TMEM260. A Pedigree chart of the family showing members with confirmed variants of persistent truncus arteriosus. Affected individuals are denoted by filled symbols. B Cardiac phenotype of two probands. F1-II-3 Persistent truncus arteriosus (type II in Collett and Edwards classification) with quadricuspid truncal valve, two ventricular septal defects, aberrant right subclavian artery, and collateral vessel from the left atrium to the right atrium. F1-II-4 Persistent truncus arteriosus (type III in Collett and Edwards classification) with tricuspid truncal valve, ventricular septal defect, and right aortic arch. C Sequence chromatograms of the TMEM260 gene (NM_017799.4) are shown. The c.1617del variant in the TMEM260 gene (red arrow) was observed to be heterozygous in F1-I-1, F1-I-2, and F1-II-2 and homozygous in F1-II-3 and F1-II-4. D The structures of the human TMEM260 genes, and the positions of the variant (red arrow) are shown. Changes in amino acid are shown in the rectangle. TPR, tetratricopeptide

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