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(A) Pedigree with segregation of two allelic VAC14 variants. (B) Sanger sequencing of the paternally inherited c.1096 + 1 G>C variant. (C–D) Comparison of genomic DNA and complementary DNA sequencing of the c.1271 G>T variant; Both alleles are detected in the patients' genomic sequence (C), however, sequencing of the cDNA detected only the allele carrying the c.1271 G>T variant, consistent with loss of the c.1096 + 1 G>C allele due to nonsense‐mediated decay of the mRNA (D).
