A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

Figure 2

(a) Genetic characteristics of the proband and offspring. The result of DNA sequencing in the index patient (IV-4) demonstrating a homozygous single G to A nucleotide substation at position 1083 of the CASQ2 gene leading to a Trp361 (=W361X) stop-codon mutation. A heterozygous mutation was identified in her daughter (V-3) and son (V-4). (b) Schematic topology of CASQ2, displaying the putative location of the W361X mutation (red arrow). (c) Pedigree of the index family. The proband is marked by an arrow. The results of the CASQ2 genetic screen were performed on the index patient and her children at an age of 27 and 24, indicating a heterozygous mutation (c.1038 C/G) in the CASQ2 gene.