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Figure 2 Mutational analysis of TCAP in hypertrophic cardiomyopathy (HCM). Filled and open symbols indicate affected and unaffected individuals, respectively. The presence (+) or absence (–) of a TCAP mutation is noted. SCD = sudden cardiac death (JH14: II-4 and II-5 died after exercise at age 44 and 33 years, respectively; JH945: I-1 died after exercise at age 34 years). (a) Pedigree of a Japanese HCM family. The arrow indicates the proband (JH945 II-2). A TCAP mutation was found in II-2 and III-1. (b) Direct sequencing data of TCAP exon 2 from a control (left) and the proband (right). Codon 137 of the control was ACA (Thr), whereas the patient was heterozygous for an ATA mutation (Ile). (c) Pedigree of another Japanese HCM family. A TCAP mutation was found in II-1, II-3, III-1, and III-2. (d) Direct sequencing data of TCAP exon 2 from a control and the proband (JH14 II-1). Codon 153 of the control was CGT (Arg), whereas the patient was heterozygous for a CAT mutation (His).