From: Identification of novel candidate disease genes from de novo exonic copy number variants
Reference | Previous cases | Â | Â | Â | Â | Â | Â | Â |
---|---|---|---|---|---|---|---|---|
Case number | Erdogan et al.; Chen et al.; Crowley et al.; Johansson et al. (5 cases in 2 families); Louw et al. (4 cases); Fujita et al. | Pt1 | Pt2 | Pt3 | Pt4 | Pt5 | Pt6 | Pt7 (DECIPHER 286841) |
Gender | 8 females; 6 males | Male | Male | Female | Male | Male | Male | Female |
Variant | 6 CNV del (123 kb – 5.6 Mb); 1 CNV dup (58 kb); 1 stop-gain; 1 frameshift | chr15: 37,328,986-37,332,249a | chr15: 35,001,138-39,899,594 | chr15: 33,894,032-38,659,166 | chr15: 35,001,138-38,474,933 | chr15: 36,512,757-38,052,959a | chr15: 36,790,702-37,404,359a | chr15:36,606,006-37,515,525 |
3.2Â kb del | 4.9Â Mb del | 4.8Â Mb del | 3.47Â Mb del | 1.54Â Mb del | 0.6Â Mb del | 0.9 Mb del | ||
Confirmation method |  | PCR + Sanger | FISH | FISH | FISH | PCR + Sanger | PCR + Sanger | Unknown |
Affected genes |  | MEIS2 | MEIS2 + 14 other genes | MEIS2 + 21 other genes | MEIS2 + 7 other genes | MEIS2 + 1 other gene | MEIS2 + 1 other gene | MEIS2 |
Inheritance | 9 de novo; 4 inherited; 1 mosaic | De novo | De novo | De novo | Mat | Unknown | Unknown | De novo |
Parental studies | Â | CMA | FISH | FISH | FISH | N/A | N/A | Unknown |
Cleft lip and cleft palate | 12 out of 14 | + | N/A | N/A | N/A | Bifid uvula | N/A | Bifid uvula |
Cardiac malformation | Ventricular septal defect (7); atrial septal defect (2); LVOTO; CoA | NR | N/A | N/A | NR | NR | NR | Learning problems, aggressive behavior |
Cognitive and behavioral phenotype | ID (7); delayed (6); ASD (2); LD (2) | NR | N/A | N/A | ASD | Global DD, ASD, ADHD | ASD? | Slower verbal development |
Verbal developmental delay | 4 out of 4 | Possibly | N/A | N/A | NR | Delayed verbal milestones | Delayed language skills | NR |
Motor developmental delay | 12 out of 12 | NR | N/A | N/A | NR | Delayed motor milestones | NR | NR |
Walked at age | 14 months – 3 years | NR | N/A | N/A | NR | 2 years | NR | NR |
Gastro-esophageal reflux | 2 out of 2 | NR | N/A | N/A | NR | NR | NR | NR |
Other features | Hypotonia; prolapse of epiglottis; bilateral moderate hearing loss; agenesis of the right tympanic membrane; a gracile corpus callosum; congenital lobar emphysema, syndactyly; severe hypermetropia, severe constipation | NR | Hypertonia | MCA | NR | Asthma; sister with Ebstein’s cardiac anomaly; family history of ID; maternal prenatal cocaine use | NR | Calcaneovalgus, velopharyngeal insufficiency, asymmetric chest |