DNA samples from all family members in the two-generation pedigree were genotyped by means of Affymetrix GeneChip Human Mapping 100K Arrays and short-tandem-repeat markers that had been identified within the lod – 2 linkage interval (the equivalent of a confidence interval around the maximum lod score, consisting of the interval from the maximum lod score to the score minus 2). Parametric analyses were performed with the use of the SimWalk2 program. The coding regions of all 51 known genes within the lod – 2 linkage interval (Table S2 in the Supplementary Appendix) were analyzed by means of Sanger sequencing. Variants were confirmed in all family members. We evaluated messenger RNA from lymphoblastoid cell lines. Detection of copy-number variations was carried out with the use of Illumina 1M-Duo arrays.
