Brief results of family based sequencing data analysis*
| Family 1 | Family 2 | Family 3 | |
|---|---|---|---|
| Phenotype(s) | Rodriguez syndrome | Idiopathic haemolytic anaemia | Severe intellectual disability, autistic behaviours, attention deficit hyperactivity disorder and very distinctive facial features |
| Sequencing type | WGS | WES | WGS |
| Family members | 5 | 4 | 10 |
| # of affected(s) | 1 | 1 | 2 |
| # of de novo | 6 | 16 | 18 |
| # of autosomal recessive | 1 | 0 | 1 |
| # of X linked | 0 | 0 | 1 |
| # of comp het | 2 | 2 | 2 |
| Likely disease-contributing gene | SF3B4 | PKLR | TAF1 |
*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.