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. Author manuscript; available in PMC: 2024 Feb 6.
Published in final edited form as: Circ Genom Precis Med. 2023 Feb 22;16(2):e003726. doi: 10.1161/CIRCGEN.122.003726

Figure 3 |. Genome sequencing for the identification of a novel pathogenic substrate in an autosomal dominant LQTS pedigree.

Figure 3 |

Shown is a multi-generation pedigree diagnosed with LQTS. The arrow points to the family index case. Squares represent males, Circles represent females. The black symbols represent family members diagnosed with LQTS based on a prolonged QTc interval. The numbers within the symbols represent the QTc measurements in milliseconds. The boxes under the symbols represent the genotype data for both the KCNQ1-p.G292D and ALG10B-p.G6S variants. The dark blue boxes represent those family members who are genotype-positive for KCNQ1-p.G292D. The dark red boxes represent those family members who are genotype positive for ALG10B-p.G6S. Family members who are genotype-negative for either the KCNQ1 or ALG10B variants are illustrated by the light blue or light red boxes, respectively. Figure created using Biorender.com.