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Table 3 Clinical information on patients with MEIS2 variants

From: Identification of novel candidate disease genes from de novo exonic copy number variants

Reference Previous cases        
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
3.2 kb del 4.9 Mb del 4.8 Mb del 3.47 Mb del 1.54 Mb del 0.6 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   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
  1. aCNV coordinates obtained using PCR and Sanger sequencing of breakpoint junction; note that Sanger sequencing of breakpoint junction PCR amplification product in Pt1 was affected by the homonucleotide tracts (poly-A/T) close by the breakpoint junction; therefore, the CNV coordinates in Pt1 were determined by the coordinates of the poly A/T tracts
  2. N/A not available, NR not reported, ID intellectual disability, ASD Autism Spectrum Disorder, LD learning disability, LVOTO left ventricular outflow tract obstruction, CoA coarctation of the aorta, CHD coronary heart disease, MCA multiple congenital anomalies, Mat maternal