Table 3.

Comparison of phenotype severity expressed in mosaic male patients grouped by variant types and VAF.

Group	Our cohort (n = 11) and the literature (n = 18)			Our cohort (n = 11) and the literature (n = 10)
	Missense variants (n = 13)	Truncating variants (n = 16)	p -value	High VAF (n = 12)	Low VAF (n = 9)	p -value
Variant types, n/total n (%)
Missense variants	-	-	-	9/12 (75.0%)	1/9 (11.1%)	0.003*
Truncating variants	-	-		2/12 (16.7%)	8/9 (88.9%)
Seizure onset age, mo, median (IQR)	6 (5-8)	9 (8-19)	0.002*	6 (5–9.5)	9 (8.5–13)	0.018*
Age at the last follow-up, yrs, median (IQR)	5.0 (3.4–7.8)	5.7 (2.5–13.0)	0.809	6.7 (3.3–8.7)	6.0 (4.0–13.0)	0.972
Seizure-free, n/total n (%)	0/13 (0)	5/16 (31.3%)	0.048*	0/12 (0)	4/9 (44.4%)	0.021*
DD/ID, n/total n (%)	10/13 (76.9%)	9/16 (56.3%)	0.433	10/12 (83.3%)	5/9 (55.6%)	0.331
DD/ID severity, median (IQR)	3.0 (0.5–3.8)	1.5 (1.0–3.0)	0.283	3.0 (2.0–3.5)	1.5 (1.0–2.8)	0.182
ASD/autistic features, n/total n (%)	8/12 (66.7%)	6/15 (40.0%)	0.252	7/12 (58.3%)	3/8 (37.5%)	0.650

ASD, autism spectrum disorder; DD, developmental delay; ID, intellectual disability; IQR, interquartile range; mo, months; n, number of patients; VAF, variant allele frequency; yrs, years. VAF of peripheral blood was classified as “low VAF” ( ≤ 50%) and “high VAF” (> 50%). DD/ID severity was assigned values of 0–4: (0) “normal,” (1) “borderline,” (2) “mild DD/ID,” (3) “moderate DD/ID,” and (4) “severe or profound DD/ID.” Two patients with a “moderate/severe severity of intellect in the literature were calculated as 3.5. Missing values in the literature were not included in the analysis. DD/ID severity: total n = 12 for missense variants; total n = 14 for truncating variants; total n = 12 for high VAF; total n = 8 for low VAF. The Wilcoxon rank-sum test or Fisher's exact test was used. Statistical significance:

^*p < 0.05.