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Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis  Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, Hidehito Inagaki,

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Presentation on theme: "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis  Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, Hidehito Inagaki,"— Presentation transcript:

1 Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis 
Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, Hidehito Inagaki, Yoshie Fukasawa, Hiroki Kurahashi, Seiji Kojima, Yoshiyuki Takahashi, Taichi Kato  International Journal of Cardiology  Volume 274, Pages (January 2019) DOI: /j.ijcard Copyright © 2018 Elsevier B.V. Terms and Conditions

2 Fig. 1 Pedigree chart of families with familial supravalvular aortic stenosis Arrows indicate probands for whom whole-exome sequencing was performed. SVAS, supravalvular aortic stenosis; PPS, peripheral pulmonary stenosis; VSD, ventricular septal defect; ASD, atrial septal defect; AS, aortic stenosis. International Journal of Cardiology  , DOI: ( /j.ijcard ) Copyright © 2018 Elsevier B.V. Terms and Conditions

3 Fig. 2 Copy-number analysis
The estimated copy number of each exon based on the number of reads in each exon in whole-exome sequencing. Each bar represents an exon, and the vertical axis represents the estimated copy number. Arrows indicate estimated deleted regions. International Journal of Cardiology  , DOI: ( /j.ijcard ) Copyright © 2018 Elsevier B.V. Terms and Conditions

4 Fig. 3 ELN cDNA showing the exons and mutations detected
This figure summarizes previously reported and newly identified mutations for familial and sporadic SVAS. The numbers above open boxes indicate the exon numbers. The present findings are shown in bold letters. International Journal of Cardiology  , DOI: ( /j.ijcard ) Copyright © 2018 Elsevier B.V. Terms and Conditions

5 Fig. S1 The result of Sanger sequencing for the mutations found in whole-exome sequencing in families A, B, and C The upper panel of each presentation shows the heterozygous mutations of the affected family members, while the lower panel shows that of unaffected ones. The variant alleles are indicated below the reference sequence. International Journal of Cardiology  , DOI: ( /j.ijcard ) Copyright © 2018 Elsevier B.V. Terms and Conditions

6 Fig. S2 MLPA results for ELN gene and adjacent genes
Exons of each gene and normalized ratios are given on the X-axis and Y-axis, respectively. Black dots represent the normalized ratios and 95% confidence intervals (CIs) of the signal of each probe to the signal of every reference probe in the run. Boxes represent the mean ratios and 95% CIs of all reference samples in the run. The analysis verifies heterozygous exonic deletions in each affected member of families E, F, and G. International Journal of Cardiology  , DOI: ( /j.ijcard ) Copyright © 2018 Elsevier B.V. Terms and Conditions

7 Fig. S3 Copy-number analysis with WES and MLPA results for ELN gene and adjacent genes in family D A. The estimated copy number of each exon based on the number of reads in each exon in whole-exome sequencing. Each bar represents an exon, and the vertical axis represents the estimated copy number. B. Exons of each gene and normalized ratios are given on the X-axis and Y-axis, respectively. Black dots represent the normalized ratios and 95% confidence intervals (CIs) of the signal of each probe to the signal of every reference probe in the run. Boxes represent the mean ratios and 95% CIs of all reference samples in the run. The analysis shows no heterozygous exonic deletions in the proband of family D. International Journal of Cardiology  , DOI: ( /j.ijcard ) Copyright © 2018 Elsevier B.V. Terms and Conditions

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