Table 1

Summary of whole genome, whole exome and X chromosome specific exome sequencing for two affected related individuals

Individual III-5Individual IV-1Shared variants
Whole genomeWhole exomeX exomeX exome
Total variants2 647 93945 18217181197
Novel variants251 0397869300192
Variants in haplotype block35993413790
Fetal nervous system expressed7
Confirmed by sanger sequencing2
Predicted damaging1
  • The number of variants for each step in the analysis pipeline for the three distinct sequencing methods is shown. There were a total of 15 variants covering 12 genes shared among the two individuals (SSX4, FOXR2, RAB40AL, GRIPAP1, CLCN5, FOXR2, SPIN3, ARHGEF9, FAM123B, KIAA2022, AR, TRPC5). Of these 12 genes, seven were expressed in the fetal nervous system (GRIPAP1, CLCN5, SPIN3, ARHGEF9, FAM123B, KIAA2022, RAB40AL) and two of these genes (ARHGEF9 and RAB40AL) contained missense mutations and segregation with the phenotype in the family.

  • MS, missense; NS, nonsense; SS, splice site; UTR, untranslated region.