Table 2

Brief results of family based sequencing data analysis*

 Family 1Family 2Family 3
Phenotype(s)Rodriguez syndromeIdiopathic haemolytic anaemiaSevere intellectual disability, autistic behaviours, attention deficit hyperactivity disorder and very distinctive facial features
Sequencing typeWGSWESWGS
Family members5410
# of affected(s)112
# of de novo61618
# of autosomal recessive101
# of X linked001
# of comp het222
Likely disease-contributing geneSF3B4PKLRTAF1
  • *Analysis criteria: variants with coverage of ≥20× for every individual, variant frequencies (minor allele frequency, MAF)≤0.01 in the 1000 Genome Project and EPS6500 populations, and variants that were annotated as being non-synonymous, stop-gain, stop-loss, splicing or frame-shift changes. Results were obtained following the filtering processes.

  • WES, whole-exome sequencing; WGS, whole-genome sequencing.