Figure 1

A: pedigree of patient's #1 family. Patient's #1, (II.1, the proband, indicated by the arrow) carries the 843C>T SNP in exon 11. Subjects II.1, II.7, III.8 are hemizygous (single border grey line) for the mutated allele while subjects III.6 and III.7 are heterozygous (single border black line). Black filled squares and circles: subjects with eccentric remodeling of the left ventricle; grey filled squares and circles: individuals with normal echocardiogram parameters. Information concerning clinical status, cardiac phenotype and ITGB1BP2 mutations are lacking in other subjects (empty circles and squares). B: pedigree of patient's #2 family. Patient's #2 (II.1, the proband, indicated by the arrow) carries the duplication IVS6+12_18dupTTTTGAG in intron 6. Subjects II.1 and III.1 are heterozygous (single border black line) for the mutated allele while subject III.2 is hemizygous (single border grey line). Black filled circle: subject with eccentric remodeling of the left ventricle; grey filled squares and circles: individuals with normal echocardiogram parameters. Information concerning clinical status, cardiac phenotype and ITGB1BP2 mutations are lacking in other subjects (empty circles and squares). C: pedigree of patient's #3 family. Patient's #3 (II.2, the proband, indicated by the arrow) carries the C>T missense mutation at position 37 in exon 1. Subjects II.2 and III.1 are heterozygous (single border black line) for the mutated allele while II.6 and III.3 are hemizygous (single border grey line). Black filled squares and circles: subjects characterized by HCM. Empty circles and squares: not affected subjects. Some members of this family also carry a mutation in the 3'UTR of the troponin T gene (asterisk).