Table 3.
Pathogenic variants with incomplete penetrance identified in the solved patients.
| Genetic diagnosis (MIM #) | Genomic coordinates | Size | Phenotype (gender) | Inheritance |
|---|---|---|---|---|
| 1q21.1 BP2-BP3 duplication (MIM #612475) | chr1:145400040-145746492 | 0.34–1.2 | GDD/ID_isol (F); GDD/ID + micro/macro (F) | NA |
| chr1:145400040-146531598 | 0.34–1.2 | ASD_isol(M) | Inh | |
| 2p16.3 (NRXN1) deletion (MIM #614332) | chr2:50557535- 50766750 | 0.21–0.23 | ASD_isol (M) | Inh |
| chr2:48503210-51396916 | 0.29–0.30 | GDD/ID_isol (F) | DN | |
| 15q13.3 microdeletion (MIM #612001) | chr15:31140606-32438944 | 1.3–2.8 | GDD/ID_isol (M) | Inh |
| chr15:31140606-32438944 | 1.3–2.8 | GDD/ID_isol (M) | DN | |
| chr15:29214105-32438943 | 1.3–2.8 | GDD/ID_isol (F) | Inh | |
| chr15:31140606-32438943 | 1.3–2.8 | GDD/ID_synd (M) | Inh | |
| chr15:31140606-32438944 | 1.3–2.8 | GDD/ID + epi (M) | Inh | |
| chr15:31140606-32438944 | 1.3–2.8 | GDD/ID_isol (M) | Inh | |
| 15q13.3 microduplication | chr15:32029550-32438944 | 0.4–1.0 | ASD_isol (M) | Inh |
| chr15:32029550-32438943 | 0.4–1.0 | ASD_synd (F) | Inh | |
| chr15:32029550-32438943 | 0.4–1.0 | GDD/ID_isol (F) | Inh | |
| chr15:31140606-32438944 | 0.4–1.0 | Other_isol (F) | Inh | |
| 16p13.11 microdeletion | chr16:15049829-16287899 | 1.2–2.1 | GDD/ID_isol (F) | Inh |
| 16p13.11 microduplication | chr16:15049829-16287899 | 1.2–2.1 | GDD/ID_isol (F) | NA |
| chr16:15125829-16287899 | 1.2–2.1 | GDD/ID_isol (M) | NA | |
| chr16:15049829-16287899 | 1.2–2.1 | GDD/ID_isol (M) | Inh | |
| 16p13.11 deletion | chr16:15512480-18128489 | 2.6–3.4 | GDD/ID_isol (M) | Inh |
| 16p12.2 recurrent deletion | chr16:21950360-22428364 | 0.5–0.9 | ASD_isol (M) | Inh |
| 16p11.2 microdeletion (MIM #611913) | chr16:28488583-30188269 | 0.5–1.3 | ASD_isol (F) | DN |
| chr16:28488583-30188269 | 0.5–1.3 | GDD/ID + epi (F) | DN | |
| chr16:28488583-30188269 | 0.5–1.3 | GDD/ID_isol (M) | NA | |
| chr16:29664618-30171078 | 0.5–1.2 | GDD/ID_synd (M) | DN | |
| chr16:29664618-30171078 | 0.5–1.2 | GDD/ID_isol (F) | DN | |
| 16p11.2 BP2-BP3 deletion (MIM #613444) | chr16:28833437-29038072 | 0.2–1.6 | ASD_synd (F) | Inh |
| chr16:28833437-29038072 | 0.2–1.6 | GDD/ID_isol (M) | Inh | |
| 16p11.2 microduplication (MIM #614671) | chr16:29657192-30188268 | 0.5–1.3 | GDD/ID_isol (M) | Inh |
| 17q12 recurrent duplication (MIM #614526) | chr17:34816424-36207539 | 1.4-2.0 | GDD/ID_isol (M) | NA |
| 22q11.2 microduplication (MIM #608363) | chr22:18919528-21417548 | 2.5–3.2 | ASD_isol (M) | NA |
For the genetic diagnosis, MIM numbers are provided when available. Genomic coordinates correspond to hg19. For the type of CNV del deletion, dup duplication. Size includes the minimum and maximum estimated size in Mb; NA not available; For the inheritance, DN de novo, Inh inherited, NA not available. For the phenotype: ASD Autism spectrum disorder, GDD/ID Global developmental delay/intellectual disability, Other NDDs Other neurodevelopmental disorders; epi epilepsy, isol isolated forms micro/macro micro/macrocephaly, synd syndromic, F female, M male.