Whole-exome sequencing first identified a heterozygous mutation (c.2816C>T, p.T939I) that segregated with ERED in a large Swedish pedigree dating back 200 years.
Whole-genome sequencing initially uncovered a heterozygous mutation (c.2816C>T, p.T939I) that conformed to the familial pattern observed in a extensive 200-year-old Swedish ancestry tracing.