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.
Initial analysis using whole-genome sequencing revealed a rare genetic variation (c.2816C>T, p.T939I) that matched the pattern of inheritance seen in a long-standing Swedish family lineage dating back two centuries.