Fig. 1.

Pedigree and identification of the variant. a Pedigree of the family showing the relationship between affected and unaffected members. Grey line denotes unknown relationship (level of consanguinity), grey shading denotes unknown phenotype. b Chromosomal location of three variants identified within 1.9 Mb on chromosome 2. The orange text denotes the SCN9A nonsense variant. Blue text denotes the two other rare homozygous missense variants identified in the region. c Integrative Genomics Viewer (IGV) visualization of the SCN9A nonsense variant in four tested subjects