PMC6887784_01
Genetic testing results. A: Pedigree of the family under study. All the members were recruited for whole exome analysis. Mutation status of C2orf71 is shown under the symbols for each subject (+/-, heterozygous carriers). B: Sanger sequencing confirmation: Chromatographs obtained with Sanger sequencing for all family members. The arrow indicates the frameshift start. Sanger sequencing that identified the mutation c.1804_1805delAG was performed using a reverse primer.
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The pedigree structure is shown in Figure 1. Sequencing was run on an ABI 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA) using the BigDye-Terminator v3.1 cycle sequencing kit (Applied Biosystems). Sanger sequencing was performed using the DNA samples from the proband and all healthy available family members (Figure 1).