Table 1.
Gene | Genetic Variant Information | Clinical Information |
---|---|---|
ABCC8 | This information can be found in the manuscript of Busiah et al. (2013), see Supplementary Tables 3 and 7 [49] | 11 patients with nDM and DCD |
CNTN4 | CNV (deletion) in locus 3p26.3, unknown inheritance [22] | 1 patient with isolated DCD |
CTNNA3 | CNV (deletion) in locus 10q21.3, paternally inherited [22] | 1 patient with isolated DCD *1 1 patient with DCD and ADHD |
FHIT | CNVs (deletion) in locus 3p14.2, unknown inheritance [22] | 2 patients with isolated DCD |
GAP43 | CNV (deletion) in locus 3q13.31, de novo [22] | 1 patient with DCD and ADHD *2 |
KCNJ11 | This information can be found in in the manuscript of Busiah et al. (2013), see Supplementary Tables 2 and 8 [49] | 11 patients with nDM and DCD |
KLF7 | Not available [11] | 1 patient with DCD |
LSAMP | CNV (deletion) in locus 3q13.31, de novo [22] | 1 patient with DCD and ADHD *2 |
PTPRN2 | CNV (duplication) in locus 7q36.3, maternally inherited [22] | 1 patient with DCD, ADHD, and RD |
RBFOX1 | CNV (deletion) in locus 16p13.3, maternally inherited [22] | 1 patient with isolated DCD *1 |
SHANK3 | CNV (duplication) in locus 22q13.33, maternally inherited [22] | 1 patient with isolated DCD |
VIPR2 | CNV (deletion) in locus 7q36.3, maternally inherited [22] | 1 patient with DCD and ADHD |
12 genes reported in the literature in 32 patients with a clinical diagnosis of DCD. These 12 genes matched all the inclusion criteria (Figure 1) and were therefore included in our in silico analyses. The genetic information of SNP variants in the ABCC8 and KCNJ11 genes can be found in the Supplementary Tables 2, 3, 7 and 8 of the manuscript of Busiah et al. (2013) [49]. Further genetic information regarding the CNVs (chromosome, affected region of the locus, size of the CNV, and genes found in that region) can be found in Supplementary File S5 of this manuscript. The numbers in square brackets correspond to the references cited in the manuscript. nDM: neonatal diabetes mellitus; DCD: developmental coordination disorder; ADHD: attention deficit/hyperactivity disorder; RD: reading disorder. *n Same patient as indicated by the same number.