Table 3.

Clinical information on patients with MEIS2 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

^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

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