Identification of a splice-site mutation in STIM1. (A) Sanger sequencing of genomic DNA confirmed G to A substitution at the −1 position of STIM1 exon 8 (1538-1G>A) in the patient, which was initially identified by whole-exome sequencing. Sequencing of genomic DNA extracted from EBV-B cells of a healthy control shows the reference base G at the same position. (B) STIM1 genotypes of the patient and her family members from whom DNA was available for sequence analysis are listed under their symbols. Squares, males; circles, females; filled symbol, affected individual; open symbols, unaffected individuals; double horizontal line, consanguineous marriage. Genotyping was performed twice.